bims-prodis Biomed News
on Proteomics in disease
Issue of 2019‒02‒03
thirty-five papers selected by
Nancy Gough
Bioserendipity


  1. Mol Brain. 2019 01 28. 12(1): 8
      Mitochondrial dysfunction is a key feature in both aging and neurodegenerative diseases including Alzheimer's disease (AD), but the molecular signature that distinguishes pathological changes in the AD from healthy aging in the brain mitochondria remain poorly understood. In order to unveil AD specific mitochondrial dysfunctions, this study adopted a discovery-driven approach with isobaric tag for relative and absolute quantitation (iTRAQ) and label-free quantitative proteomics, and profiled the mitochondrial proteomes in human brain tissues of healthy and AD individuals. LC-MS/MS-based iTRAQ quantitative proteomics approach revealed differentially altered mitochondriomes that distinguished the AD's pathophysiology-induced from aging-associated changes. Our results showed that dysregulated mitochondrial complexes including electron transport chain (ETC) and ATP-synthase are the potential driver for pathology of the AD. The iTRAQ results were cross-validated with independent label-free quantitative proteomics experiments to confirm that the subunit of electron transport chain complex I, particularly NDUFA4 and NDUFA9 were altered in AD patients, suggesting destabilization of the junction between membrane and matrix arms of mitochondrial complex I impacted the mitochondrial functions in the AD. iTRAQ quantitative proteomics of brain mitochondriomes revealed disparity in healthy aging and age-dependent AD.
    Keywords:  Alzheimer’s disease; Complex I; Mitochondrial dysfunction; Mitochondriome; Neurodegenerative diseases; Proteomics; iTRAQ
    DOI:  https://doi.org/10.1186/s13041-019-0430-y
  2. Front Microbiol. 2018 ;9 3320
      Trypanosoma cruzi (Tc) infection causes Chagas disease (ChD) presented by dilated cardiomyopathy and heart failure. During infection, oxidative and nitrosative stresses are elicited by the immune cells for control the pathogen; however, excess nitric oxide and superoxide production can result in cysteine S-nitrosylation (SNO) of host proteins that affects cellular homeostasis and may contribute to disease development. To identify the proteins with changes in SNO modification levels as a hallmark of ChD, we obtained peripheral blood mononuclear cells (PBMC) from seronegative, normal healthy (NH, n = 30) subjects, and from seropositive clinically asymptomatic (ChD CA, n = 25) or clinically symptomatic (ChD CS, n = 28) ChD patients. All samples were treated (Asc+) or not-treated (Asc-) with ascorbate (reduces nitrosylated thiols), labeled with the thiol-labeling BODIPY FL-maleimide dye, resolved by two-dimensional electrophoresis (total 166 gels), and the protein spots that yielded significant differences in abundance or SNO level at p-value of ≤ 0.05 t-test/Welch/BH were identified by MALDI-TOF/TOF MS or OrbiTrap LC-MS/MS. Targeted analysis of a new cohort of PBMC samples (n = 10-14/group) was conducted to verify the differential abundance/SNO levels of two of the proteins in ChD (vs. NH) subjects. The multivariate adaptive regression splines (MARS) modeling, comparing differences in relative SNO level (Asc-/Asc+ ratio) of the protein spots between any two groups yielded SNO biomarkers that exhibited ≥90% prediction success in classifying ChD CA (582-KRT1 and 884-TPM3) and ChD CS (426-PNP, 582-KRT1, 486-ALB, 662-ACTB) patients from NH controls. Ingenuity Pathway Analysis (IPA) of the SNO proteome dataset normalized to changes in protein abundance suggested the proteins belonging to the signaling networks of cell death and the recruitment and migration of immune cells were most affected in ChD CA and ChD CS (vs. NH) subjects. We propose that SNO modification of the select panel of proteins identified in this study have the potential to identify ChD severity in seropositive individuals exposed to Tc infection.
    Keywords:  2DE; Chagas cardiomyopathy; S-nitrosylation; Trypanosoma cruzi; infectious disease; mass spectrometry; peripheral blood mononuclear cells
    DOI:  https://doi.org/10.3389/fmicb.2018.03320
  3. Mol Cell Biochem. 2019 Jan 29.
      Stroke is a common disorder with significant morbidity and mortality, and complex aetiology involving both environmental and genetic risk factors. Although some of the major risk factors for stoke, such as smoking and hypertension, are well-documented, the underlying genetic and detailed molecular mechanisms remain elusive. Exploring the relevant biochemical pathways may contribute to the clinical diagnosis of stroke and shed light on its aetiology. A comparative proteomic analysis of blood serum of a pair of monozygotic (MZ) twins discordant for ischaemic stroke (IS) was performed using a label-free quantitative proteomics approach. To overcome the limit of reproducibility in the serum preparation, two separate runs were performed, each consisting of three technical replicates per sample. Biological processes associated with proteins differentially expressed between the twins were explored with gene ontology (GO) classification using the functional analysis tool g:Profiler. ANOVA test performed in Progenesis LC-MS identified 179 (run 1) and 209 (run 2) proteins as differentially expressed between the affected and unaffected twin (p < 0.05). Furthermore, the level of serum fibulin 1, an extracellular matrix protein associated with arterial stiffness, was on average 13.37-fold higher in the affected twin. Each dataset was then analysed independently, and the proteins were classified according to GO terms. The categories overrepresented in the affected twin predominantly corresponded to stroke-relevant processes, including wound healing, blood coagulation and haemostasis, with a high proportion of the proteins overexpressed in the affected twin associated with these terms. By contrast, in the unaffected twin diagnosed with atopic dermatitis, there were increased levels of keratin proteins and GO terms associated with skin development. The identification of cellular pathways enriched in IS as well as the upregulation of fibulin 1 sheds new light on the underlying disease-causing mechanisms at the molecular level. Our findings of distinct proteomic signatures associated with IS and atopic dermatitis suggest proteomic profiling could be used as a general approach for improved diagnostic, prognostic and therapeutic strategies.
    Keywords:  Biomarker; Fibulin 1; Gene; Monozygotic twins; Proteomics; Stroke
    DOI:  https://doi.org/10.1007/s11010-019-03501-2
  4. Mol Cell Proteomics. 2019 Jan 28. pii: mcp.RA118.001208. [Epub ahead of print]
      Human papillomavirus (HPV) is recommended as the primary test in cervical cancer screening, with co-testing by cytology for HPV-positive women to identify cervical lesions. Cytology has low sensitivity and there is a need to identify biomarkers that could identify dysplasia that are likely to progress to cancer. We searched for plasma proteins that could identify women with cervical cancer using the multiplex proximity extension assay (PEA). The abundance of 100 proteins were measured in plasma collected at the time of diagnosis of patients with invasive cervical cancer and in population controls using the Olink Multiplex panels CVD II, INF I, and ONC II. Eighty proteins showed increased levels in cases compared to controls. We identified a signature of 11 proteins (PTX3, ITGB1BP2, AXIN1, STAMPB, SRC, SIRT2, 4E-BP1, PAPPA, HB-EGF, NEMO and IL27) that distinguished cases and controls with a sensitivity of 0.96 at a specificity of 1.0. This signature was evaluated in a prospective replication cohort with samples collected before, at or after diagnosis and achieved a sensitivity of 0.78 and a specificity 0.56 separating samples collected at the time of diagnosis of invasive cancer from samples collected prior to diagnosis. No difference in abundance was seen between samples collected prior to diagnosis or after treatment as compared to population controls, indicating that this protein signature is mainly informative close to time of diagnosis. Further studies are needed to determine the optimal window in time prior to diagnosis for these biomarker candidates.
    Keywords:  Blood*; Cancer biomarker(s); Cervical cancer; Clinical proteomics; Human Papillomavirus; Personalized medicine; Screening
    DOI:  https://doi.org/10.1074/mcp.RA118.001208
  5. Nan Fang Yi Ke Da Xue Xue Bao. 2019 Jan 30. 39(1): 13-22
      OBJECTIVE: To screen potential plasma protein biomarkers for the progression of cervical precancerous lesions into cervical carcinoma and analyze their functions.METHODS: Plasma samples obtained from healthy control subjects, patients with low-grade squamous intraepithelial lesion (LSIL), high-grade squamous intraepithelial lesion (HSIL), cervical cancer (CC), and patients with CC after treatment were enriched for low-abundance proteins for liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis. The MS data of the samples were analyzed using Discoverer 2.2 software, and the differential proteins (peptide coverage ≥20%, unique peptides≥2) were screened by comparison of LSIL, HSIL and CC groups against the control group followed by verification using target proteomics technology. Protein function enrichment and coexpression analyses were carried out to explore the role of the differentially expressed proteins as potential biomarkers and their pathological mechanisms.
    RESULTS: Compared with the control group, both LSIL group and HSIL group showed 9 differential proteins; 5 differentially expressed proteins were identified in CC group. The proteins ORM2 and HPR showed obvious differential expressions in LSIL and HSIL groups compared with the control group, and could serve as potential biomarkers for the progression of cervical carcinoma. The expression of F9 increased consistently with the lesion progression from LSIL to HSIL and CC, suggesting its value as a potential biomarker for the progression of cervical cancer. CFI and AFM protein levels were obviously decreased in treated patients with CC compared with the patients before treatment, indicating their predictive value for the therapeutic efficacy. Protein function enrichment analysis showed that all these differentially expressed proteins were associated with the complement system and the coagulation cascades pathway.
    CONCLUSIONS: We identified 5 new protein biomarkers (F9, CFI, AFM, HPR, and ORM2) for cervical precancerous lesions and for prognostic evaluation of CC, and combined detection of these biomarkers may help in the evaluation of the development and progression of CC and also in improving the diagnostic sensitivity and specificity of cervical lesions.
    Keywords:  cervical carcinoma; liquid chromatographytandem mass spectrometry; proteomics; serum biomarkers
    DOI:  https://doi.org/10.12122/j.issn.1673-4254.2019.01.03
  6. Mol Oncol. 2019 Jan 28.
      Perineural invasion (PNI) is a common and characteristic feature of pancreatic ductal adenocarcinoma (PDAC) that is associated with poor prognosis, tumor recurrence, and generation of pain. However, the molecular alterations in cancer cells and nerves within PNI have not previously been comprehensively analysed. Here, we describe our proteomic analysis of the molecular changes underlying neuro-epithelial interactions in PNI using liquid chromatography-mass spectrometry (LC-MS/MS) in microdissected PNI and non-PNI cancer, as well as invaded and non-invaded nerves from formalin-fixed, paraffin-embedded PDAC tissues. In addition, an in vitro model of PNI was developed using a co-culture system comprising PDAC cell lines and PC12 cells as the neuronal element. The overall proteomic profiles of PNI and non-PNI cancer appeared largely similar. In contrast, upon invasion by cancer cells, nerves demonstrated widespread plasticity with a pattern consistent with neuronal injury. The upregulation of SCG2 (secretogranin II) and neurosecretory protein VGF (non-acronymic) in invaded nerves in PDAC tissues was further validated using immunohistochemistry. The tested PDAC cell lines were found to be able to induce neuronal plasticity in PC12 cells in our in vitro established co-culture model. Changes in expression levels of VGF, as well as of two additional proteins previously reported to be overexpressed in PNI, Nestin and Neuromodulin (GAP43), closely recapitulated our proteomic findings in PDAC tissues. Furthermore, induction of VGF, while not necessary for PC12 survival, mediated neurite extension induced by PDAC cell lines. In summary, here we report the proteomic alterations underlying PNI in PDAC and confirm that PDAC cells are able to induce neuronal plasticity. In addition, we describe a novel, simple, and easily adaptable co-culture model for in vitro study of neuro-epithelial interactions.
    Keywords:   VGF ; Perineural invasion; microdissection; pancreatic cancer; proteomics
    DOI:  https://doi.org/10.1002/1878-0261.12463
  7. Proteomics Clin Appl. 2019 Jan 27. e1800173
      PURPOSE: The purpose of this study was to elucidate the effect of excess body weight and liver fat on the plasma proteome without interference from genetic variation.EXPERIMENTAL DESIGN: The effect of excess body weight was assessed in young, healthy monozygotic twins from pairs discordant for body mass index (intrapair difference (Δ) in BMI > 3 kg/m2, n = 26) with untargeted LC-MS proteomics quantification. The effect of liver fat was interrogated via subgroup analysis of the BMI-discordant twin cohort: liver fat discordant pairs (Δliver fat > 2%, n = 12) and liver fat concordant pairs (Δliver fat < 2%, n = 14), measured by magnetic resonance spectroscopy.
    RESULTS: 75 proteins were differentially expressed within the BMI-discordant pairs, with significant enrichment for complement and inflammatory response pathways in the heavier co-twins. The complement dysregulation was found in obesity in both the liver fat subgroups. The complement and inflammatory proteins were significantly associated with adiposity measures, insulin resistance and impaired lipids.
    CONCLUSIONS AND CLINICAL RELEVANCE: The early pathophysiological mechanisms in obesity are incompletely understood. We showed that aberrant complement regulation in plasma is present in very early stages of clinically healthy obese persons, independently of liver fat and in the absence of genetic variation that typically confounds human studies. This article is protected by copyright. All rights reserved.
    Keywords:  acquired Obesity; complement cascade; label-free proteomics; monozygotic twins; plasma proteomics
    DOI:  https://doi.org/10.1002/prca.201800173
  8. Atherosclerosis. 2019 Jan 14. pii: S0021-9150(19)30004-8. [Epub ahead of print]282 67-74
      BACKGROUND AND AIMS: The predictive value of traditional CV risk calculators is limited. Novel indicators of CVD progression are needed particularly in the young population. The main aim of this study was the identification of a molecular profile with added value to classical CV risk estimation.METHODS: Eighty-one subjects (30-50 years) were classified in 3 groups according to their CV risk: healthy subjects; individuals with CV risk factors; and those who had suffered a previous CV event. The urine proteome was quantitatively analyzed and significantly altered proteins were identified between patients' groups, either related to CV risk or established organ damage. Target-MS and ELISA were used for confirmation in independent patients' cohorts. Systems Biology Analysis (SBA) was carried out to identify functional categories behind CVD.
    RESULTS: 4309 proteins were identified, 75 of them differentially expressed. ADX, ECP, FETUB, GDF15, GUAD and NOTCH1 compose a fingerprint positively correlating with lifetime risk estimate (LTR QRISK). Best performance ROC curve was obtained when ECP, GDF15 and GUAD were combined (AUC = 0.96). SBA revealed oxidative stress response, dilated cardiomyopathy, signaling by Wnt and proteasome, as main functional processes related to CV risk.
    CONCLUSIONS: A novel urinary protein signature is shown, which correlates with CV risk estimation in young individuals. Pending further confirmation, this six-protein-panel could help in CV risk assessment.
    Keywords:  Biomarkers; Cardiovascular risk; Early prevention; Lifetime risk; Proteomics; Systems biology analysis
    DOI:  https://doi.org/10.1016/j.atherosclerosis.2019.01.003
  9. Am J Obstet Gynecol. 2019 Jan 25. pii: S0002-9378(19)30250-9. [Epub ahead of print]
      BACKGROUND: We have previously shown that protein biomarkers associated with circulating microparticles proteins (CMPs) obtained at the end of the first trimester may detect physiologic changes in maternal-fetal interaction such that the risk of spontaneous preterm delivery ≤35 weeks can be stratified.OBJECTIVES: We present here a study extension and validation of the CMP protein multiplex concept using a larger sample set from a multicenter population that allows for model derivation in a training set and characterization in a separate testing set.
    STUDY DESIGN: EDTA plasma was obtained from three established biobanks (Seattle, Boston and Pittsburgh). Samples were from patients at a median of 10-12 weeks gestation and the CMPs were isolated via size-exclusion chromatography followed by protein identification via targeted protein analysis using liquid-chromatography, multiple reaction monitoring-mass (LC-MRM) spectrometry. Eighty-seven women delivered at ≤35 weeks and 174 women who delivered at term were matched by maternal age (± 2 years) and gestational age at sample draw (± 2 weeks). From our prior work, the CMP protein multiplex comprising F13A, FBLN1, IC1, ITIH2 and LCAT was selected for validation.
    RESULTS: For delivery ≤35 weeks, the ROC (receiver operating characteristic) curve for a panel of CMP proteins (F13A, FBLN1, IC1, ITIH2 and LCAT) revealed an associated area under the receiver operating characteristic curve (AUC) of 0.74 (95% CI: 0.63-0.81). A separate panel of markers (IC1, LCAT, TRFE, and ITIH4), which stratified risk among mothers with a parity of 0, showed an AUC of 0.77 (95% CI: 0.61-0.90).
    CONCLUSION: We have identified a set of CMP proteins that provide, at 10-12 weeks gestation, a clinically useful AUC in an independent test population. Furthermore, we determined that parity is pertinent to the diagnostic testing performance of the biomarkers for risk stratification.
    Keywords:  exosome; microparticle; parity; proteomics; spontaneous preterm birth
    DOI:  https://doi.org/10.1016/j.ajog.2019.01.220
  10. Proteomics Clin Appl. 2019 Jan 31. e1800198
      The application of protein (or peptide) biomarkers in clinical studies is a dynamic, ever-growing field. The introduction of clinical proteomics/ peptidomics, such as mass spectrometry- based assays and multiplexed antibody- based protein arrays, has reshaped the landscape of biomarker identification and validation, allowing the discovery of novel biomarkers at an unprecedented rate and reliability. To reflect the current status with respect to implementation of protein/peptide biomarkers, an investigation of the most recent (last 6 years) clinical studies from clinicaltrials.gov is presented. Forty-two clinical trials involving the direct use of protein or peptide biomarkers in patient stratification, and/or disease diagnosis and prognosis is highlighted. Most of the clinical trials that include proteomics/ protein assays are aiming towards implementation of non-invasive diagnostic tools for early detection, while many of the clinical trials are targeting to correlate the protein abundance with the risk of a disease event. Less in number are the studies in which the protein biomarkers are applied to stratify the patients for intervention. All the above areas of application are considered of great importance for improving disease management, in an era where implementation towards precision medicine is the desired outcome of proteomics biomarker research. This article is protected by copyright. All rights reserved.
    Keywords:  Clinical Trials; Diagnosis; Prognosis; Proteomic/ Protein assays; Stratification
    DOI:  https://doi.org/10.1002/prca.201800198
  11. Transl Vis Sci Technol. 2019 Jan;8(1): 14
      Purpose: To explore top-ranked plasma proteins related to neovascular age-related macular degeneration (AMD) and geographic atrophy (GA), and explore pathways related to neovascular AMD and GA.Methods: We conducted a pilot study of patients with neovascular AMD (n = 10), GA (n = 10), and age-matched cataract controls (n = 10) who were recruited into an AMD registry. We measured 4001 proteins in ethylenediaminetetraacetic acid plasma samples using an aptamer-based proteomic technology. Relative concentrations of each of 4001 proteins were log (base 2) transformed and compared between cases of neovascular AMD and GA versus controls using linear regression. Pathway analysis was conducted using pathways downloaded from Reactome.
    Results: In this pilot study, higher levels of vinculin and lower levels of CD177 were found in patients with neovascular AMD compared with controls. Neuregulin-4 was higher and soluble intercellular adhesion molecule-1 was lower in patients with GA compared with controls. For neovascular AMD, cargo trafficking to the periciliary membrane, fibroblast growth factor receptor 3b ligand binding and activation, and vascular endothelial growth factor-related pathways were in the top ranked pathways. The top-ranked pathways for GA included several related to ErbB4 signaling.
    Conclusions: We found different proteins and different pathways associated with neovascular AMD and GA. Vinculin and some of the top-ranked pathways have been previously associated with AMD, whereas others have not been described.
    Translational Relevance: Biomarkers identified in plasma likely reflect systemic alterations in protein expression and may improve our understanding of the mechanisms leading to AMD.
    Keywords:  aptamer-based technologies; geographic atrophy; neovascular AMD; proteomics
    DOI:  https://doi.org/10.1167/tvst.8.1.14
  12. Sci Rep. 2019 Jan 31. 9(1): 1036
      Existing understanding of molecular composition of sputum and its role in tuberculosis patients is variously limited to its diagnostic potential. We sought to identify infection induced sputum proteome alteration in active/non tuberculosis patients (A/NTB) and their role in altered lung patho-physiology. Out of the study population (n = 118), sputum proteins isolated from discovery set samples (n = 20) was used for an 8-plex isobaric tag for relative and absolute concentration analysis. A minimum set of protein with at least log2(ATB/NTB) >±1.0 in ATB was selected as biosignature and validated in 32 samples. Predictive accuracy was calculated from area under the receiver operating characteristic curve (AUC of ROC) using a confirmatory set (n = 50) by Western blot analysis. Mass spectrometry analysis identified a set of 192 sputum proteins, out of which a signature of β-integrin, vitamin D binding protein:DBP, uteroglobin, profilin and cathelicidin antimicrobial peptide was sufficient to differentiate ATB from NTB. AUC of ROC of the biosignature was calculated to 0.75. A shift in DBP-antimicrobial peptide (AMP) axis in the lungs of tuberculosis patients is observed. The identified sputum protein signature is a promising panel to differentiate ATB from NTB groups and suggest a deregulated DBP-AMP axis in lungs of tuberculosis patients.
    DOI:  https://doi.org/10.1038/s41598-018-37662-9
  13. Sci Rep. 2019 Jan 29. 9(1): 895
      The prognosis of patients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) remains unsatisfactory and, despite major advances in genomic studies, the biological mechanisms underlying chemoresistance are still poorly understood. We conducted for the first time a large-scale differential multi-omics investigation on DLBCL patient's samples in order to identify new biomarkers that could early identify patients at risk of R/R disease and to identify new targets that could determine chemorefractoriness. We compared a well-characterized cohort of R/R versus chemosensitive DLBCL patients by combining label-free quantitative proteomics and targeted RNA sequencing performed on the same tissues samples. The cross-section of both data levels allowed extracting a sub-list of 22 transcripts/proteins pairs whose expression levels significantly differed between the two groups of patients. In particular, we identified significant targets related to tumor metabolism (Hexokinase 3), microenvironment (IDO1, CXCL13), cancer cells proliferation, migration and invasion (S100 proteins) or BCR signaling pathway (CD79B). Overall, this study revealed several extremely promising biomarker candidates related to DLBCL chemorefractoriness and highlighted some new potential therapeutic drug targets. The complete datasets have been made publically available and should constitute a valuable resource for the future research.
    DOI:  https://doi.org/10.1038/s41598-018-37273-4
  14. Expert Rev Proteomics. 2019 Jan 31.
      INTRODUCTION: Cancer changes the proteome in complex ways that reach well beyond simple changes in protein abundance. Genomic and transcriptional variations and post translational protein modification create functional variants of a protein, known as proteoforms. Childhood cancers have fewer genomic alterations but show equally dramatic phenotypic changes as malignant cells in adults. Therefore, unraveling the complexities of the proteome is even more important in pediatric malignancies. Areas covered: In this review, the biological origins of proteoforms and technological advancements in the study of proteoforms are discussed. Particular emphasis is given to their implication in childhood malignancies and the critical role of cancer-specific proteoforms for the next generation of cancer therapies and diagnostics. Expert opinion: Recent advancements in technology have led to a better understanding of the underlying mechanisms of tumourigenesis. This has been critical for the development of more effective and less harmful treatments that are based on direct targeting of altered proteins and deregulated pathways. As proteome coverage and the ability to detect complex proteoforms increase, the most need for change is in data compilation and database availability to mediate high level data analysis and allow for better functional annotation of proteoforms.
    Keywords:  Biomarkers; Cancer; Childhood Cancer; Genomics; Mass Spectrometry; Pediatrics; Precision Medicine; Proteoforms; Proteogenomics; Proteomics
    DOI:  https://doi.org/10.1080/14789450.2019.1575206
  15. J Clin Med. 2019 Jan 25. pii: E141. [Epub ahead of print]8(2):
      We investigated biological determinants that would associate with the response to a diet and weight loss programme in impaired glucose regulation (IGR) people using sequential window acquisition of all theoretical fragment ion spectra (SWATH) mass spectrometry (MS), a data acquisition method which complement traditional mass spectrometry-based proteomics techniques. Ten women and 10 men with IGR underwent anthropometric measurements and fasting blood tests. SWATH MS was carried out with subsequent immunoassay of specific peptide levels. After a six-month intervention, 40% of participants lost 3% or more in weight, 45% of patients remained within 3% of their starting weight and 15% increased their weight by 3% or more. Hemoglobin A1c (HbA1C) level was reduced with weight loss with improvements in insulin sensitivity. SWATH MS on pre-intervention samples and subsequent principal component analysis identified a cluster of proteins associated with future weight loss, including insulin-like growth factor-II (IGF-II) and Vitamin D binding protein. Individuals who lost 3% in weight had significantly higher baseline IGF-II levels than those who did not lose weight. SWATH MS successfully discriminated between individuals who were more likely to lose weight and potentially improve their sensitivity to insulin. A higher IGF-II baseline was predictive of success with weight reduction, suggesting that biological determinants are important in response to weight loss and exercise regimes. This may permit better targeting of interventions to prevent diabetes in the future.
    Keywords:  IGR; SWATH MS; lifestyle change; proteomics
    DOI:  https://doi.org/10.3390/jcm8020141
  16. Mol Omics. 2019 Jan 31.
      The scientific value of re-analyzing existing datasets is often proportional to the complexity of the data. Proteomics data are inherently complex and can be analyzed at many levels, including proteins, peptides, and post-translational modifications to verify and/or develop new hypotheses. In this paper, we present our re-analysis of a previously published study comparing colon biopsy samples from ulcerative colitis (UC) patients to non-affected controls. We used a different statistical approach, employing a linear mixed-effects regression model and analyzed the data both on the protein and peptide level. In addition to confirming and reinforcing the original finding of upregulation of neutrophil extracellular traps (NETs), we report novel findings, including that Extracellular Matrix (ECM) degradation and neutrophil maturation are involved in the pathology of UC. The pharmaceutically most relevant differential protein expressions were confirmed using immunohistochemistry as an orthogonal method. As part of this study, we also compared proteomics data to previously published mRNA expression data. These comparisons indicated compensatory regulation at transcription levels of the ECM proteins we identified and open possible new avenues for drug discovery.
    DOI:  https://doi.org/10.1039/c8mo00239h
  17. Proteomics Clin Appl. 2019 Jan 31. e1800093
      The goal of this manuscript is to explore the role of clinical proteomics for detecting mutations in COPD and lung cancer by mass spectrometry-based technology. COPD and lung cancer caused by smoke inhalation are most likely linked by challenging the immune system via partly shared pathways. GWAS have identified several single nucleotide polymorphisms (SNPs) which predispose an increased susceptibility to COPD and lung cancer. In lung cancer this leads to coding mutations in the affected tissues, development of neoantigens and different functionality and abundance of proteins in specific pathways. If a similar reasoning can also be applied in COPD is discussed. The technology of mass spectrometry has developed into an advanced technology for proteome research detecting mutated peptides or proteins and finding relevant molecular mechanisms which will enable predicting the response to immunotherapy in COPD and lung cancer patients. This article is protected by copyright. All rights reserved.
    Keywords:  COPD; lung cancer; neo-antigens
    DOI:  https://doi.org/10.1002/prca.201800093
  18. J Cell Physiol. 2019 Jan 28.
      Oral squamous cell carcinoma (OSCC) is the most common malignancy in head and neck cancer and a global cause of cancer-related death. Due to the poor survival rates associated with OSCC, there is a growing need to develop novel technologies and predictive biomarkers to improve disease diagnosis. The identification of new cellular targets in OSCC tumors will benefit such developments. In this study, isobaric tags for relative and absolute quantitation (iTRAQ)-based proteomics analysis combined with 2-dimensional liquid chromatography and tandem mass spectrometry (2D LC-MS/MS) were used to identify differentially expressed proteins (DEPs) between tumor and normal tissues. Of the DEPs detected, the most significantly downregulated protein in OSCC tissue was prolactin-inducible protein (PIP). Clonogenic and 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) experiments showed that the proliferation capacity of OSCC cells overexpressing PIP decreased due to cell cycle arrest at the G0/G1 checkpoint. Wound-healing and transwell assay further showed that PIP overexpression also reduced the migration and invasion of OSCC cells. Immunohistochemistry (IHC) was used to analyze the expression in OSCC, indicating that PIP may be secreted by glandular cells and have an inhibitory effect on OSCC cells to produce. In western blot analysis, silencing studies confirmed that PIP mediates these effects through the AKT/mitogen-activated protein kinase (MAPK) signaling axis in OSCC cells. Taken together, this study reveals PIP as a key mediator of OSCC cell growth, migration, and invasion through its effect on AKT/MAPK signaling.
    Keywords:  OSCC; PIP; iTRAQ
    DOI:  https://doi.org/10.1002/jcp.28180
  19. Cancer Prev Res (Phila). 2019 Feb 01. pii: canprevres.0221.2018. [Epub ahead of print]
      The best known ovarian cancer biomarker, CA125, is neither adequately sensitive nor specific for screening the general population. By using a combination of proteins for screening, it may be possible to increase the sensitivity and specificity over CA125 alone. In this study, we used Proseek® Multiplex Oncology II plates to simultaneously measure the expression of 92 cancer-related proteins in serum using proximity extension assays. This technology combines the sensitivity of the polymerase chain reaction with the specificity of antibody-based detection methods, allowing multiplex biomarker detection and high throughput quantification. We analyzed one microliter of sera from each of 61 women with ovarian cancer and compared the values obtained to those from 88 age-matched healthy women. Principle component analysis and unsupervised hierarchical clustering separated the ovarian cancer patients from the healthy, with minimal misclassification. Data from the Proseek® plates for CA125 levels exhibited a strong correlation with clinical values for CA125. We identified 52 proteins that differed significantly (p < 0.006) between ovarian cancer and healthy samples; several of which are novel serum biomarkers for ovarian cancer. In total, 40 proteins had an estimated area under the ROC curve of 0.70 or greater. CA125 alone achieved a sensitivity of 93.4% at a specificity of 98%. However, by adding five proteins to CA125, we increased the assay sensitivity to 98.4%. Our data demonstrate that the Proseek® technology can replicate the results established by conventional clinical assays for known biomarkers, identify new candidate biomarkers, and improve the sensitivity and specificity of CA125 alone.
    DOI:  https://doi.org/10.1158/1940-6207.CAPR-18-0221
  20. J Proteome Res. 2019 Jan 31.
      The systems-level relationship between the proteomes of cerebrospinal fluid (CSF) and plasma has not been comprehensively described so far. Recently developed shotgun proteomic workflows allow for deeper characterization of the proteomes from body fluids in much larger sample size. We deployed state-of-the-art mass spectrometry-based proteomics in paired CSF and plasma samples volunteered by 120 elders with and without cognitive impairment to comprehensively characterize and examine compartmental proteome differences and relationships between both body fluids. We further assessed the influence of blood-brain barrier (BBB) integrity and tested the hypothesis that BBB breakdown can be identified from CSF and plasma proteome alterations in non-demented elders. We quantified 790 proteins in CSF and 422 proteins in plasma, and 255 of the proteins were identified in both compartments. Pearson's statistics determined 28 proteins with associated levels between CSF and plasma. BBB integrity as defined with the CSF/serum albumin index influenced 76 CSF/plasma protein ratios. In least absolute shrinkage and selection operator models, CSF and plasma proteins improved identification of BBB impairment. In conclusion, we provide here a first comprehensive draft map of interacting human CSF and plasma proteomes, in view of their complex and dynamic compositions, and influence of the BBB.
    DOI:  https://doi.org/10.1021/acs.jproteome.8b00809
  21. Clin Lab Med. 2019 Mar;pii: S0272-2712(18)31201-0. [Epub ahead of print]39(1): 61-72
      Advances in the field of omics have led to a significant expansion in biomarkers identified for complications after hematopoietic stem cell transplantation (HSCT). Biomarkers can offer an effective method for early identification of a specific disease and can be used to guide therapies. Ongoing investigations to discover biomarkers for acute graft-versus-host disease as well as other post-HSCT complications may improve early diagnosis, prognosis, and the development of new therapeutic targets. The authors review the most recent and validated diagnostic, prognostic, predictive, and response to treatment biomarkers for early complications following HSCT consistent with 2014 NIH consensus on biomarker criteria.
    Keywords:  Biomarkers; Graft versus host disease; Hematopoietic stem cell transplantation; Proteomics
    DOI:  https://doi.org/10.1016/j.cll.2018.10.005
  22. J Cachexia Sarcopenia Muscle. 2019 Jan 29.
      BACKGROUND: Loss of muscle mass worsens many diseases such as cancer and renal failure, contributes to the frailty syndrome, and is associated with an increased risk of death. Studies conducted on animal models have revealed the preponderant role of muscle proteolysis and in particular the activation of the ubiquitin proteasome system (UPS). Studies conducted in humans remain scarce, especially within renal deficiency. Whether a shared atrophying programme exists independently of the nature of the disease remains to be established. The aim of this work was to identify common modifications at the transcriptomic level or the proteomic level in atrophying skeletal muscles from cancer and renal failure patients.METHODS: Muscle biopsies were performed during scheduled interventions in early-stage (no treatment and no detectable muscle loss) lung cancer (LC), chronic haemodialysis (HD), or healthy (CT) patients (n = 7 per group; 86% male; 69.6 ± 11.4, 67.9 ± 8.6, and 70.2 ± 7.9 years P > 0.9 for the CT, LC, and HD groups, respectively). Gene expression of members of the UPS, autophagy, and apoptotic systems was measured by quantitative real-time PCR. A global analysis of the soluble muscle proteome was conducted by shotgun proteomics for investigating the processes altered.
    RESULTS: We found an increased expression of several UPS and autophagy-related enzymes in both LC and HD patients. The E3 ligases MuRF1 (+56 to 78%, P < 0.01), MAFbx (+68 to 84%, P = 0.02), Hdm2 (+37 to 59%, P = 0.02), and MUSA1/Fbxo30 (+47 to 106%, P = 0.01) and the autophagy-related genes CTPL (+33 to 47%, P = 0.03) and SQSTM1 (+47 to 137%, P < 0.01) were overexpressed. Mass spectrometry identified >1700 proteins, and principal component analysis revealed three differential proteomes that matched to the three groups of patients. Orthogonal partial least square discriminant analysis created a model, which distinguished the muscles of diseased patients (LC or HD) from those of CT subjects. Proteins that most contributed to the model were selected. Functional analysis revealed up to 238 proteins belonging to nine metabolic processes (inflammatory response, proteolysis, cytoskeleton organization, glucose metabolism, muscle contraction, oxidant detoxification, energy metabolism, fatty acid metabolism, and extracellular matrix) involved in and/or altered by the atrophying programme in both LC and HD patients. This was confirmed by a co-expression network analysis.
    CONCLUSIONS: We were able to identify highly similar modifications of several metabolic pathways in patients exhibiting diseases with different aetiologies (early-stage LC vs. long-term renal failure). This strongly suggests that a common atrophying programme exists independently of the disease in human.
    Keywords:  Autophagy; Cancer; Proteasome; Proteomics; Renal failure; Skeletal muscle
    DOI:  https://doi.org/10.1002/jcsm.12376
  23. Epigenomics. 2019 Jan 31.
      AIM: To explore molecular mechanisms underlying liver ischemia-reperfusion injury (IRI).MATERIALS & METHODS: Four Gene Expression Omnibus datasets comprising liver transplantation data were collected for a comprehensive analysis. A proteomic analysis was performed and used for correlations analysis with transcriptomic.
    RESULTS & CONCLUSION: Ten differentially expressed genes were co-upregulated in four Gene Expression Omnibus datasets, including ATF3, CCL4, DNAJB1, DUSP5, JUND, KLF6, NFKBIA, PLAUR, PPP1R15A and TNFAIP3. The combined analysis demonstrated ten coregulated genes/proteins, including HBB, HBG2, CA1, SLC4A1, PLIN2, JUNB, HBA1, MMP9, SLC2A1 and PADI4. The coregulated differentially expressed genes and coregulated genes/proteins formed a tight interaction network and could serve as the core factors underlying IRI. Comprehensive and combined omics analyses revealed key factors underlying liver IRI, and thus having potential clinical significance.
    Keywords:  comprehensive analysis; ischemia-reperfusion injury; liver transplantation; proteome; transcriptome;  combined analysis
    DOI:  https://doi.org/10.2217/epi-2018-0189
  24. Wellcome Open Res. 2018 ;3 151
      Background: Protein-conjugate capsular polysaccharide vaccines can potentially control invasive meningococcal disease (IMD) caused by five (A, C, W, X, Y) of the six IMD-associated serogroups.  Concerns raised by immunological similarity of the serogroup B capsule, to human neural cell carbohydrates, has meant that 'serogroup B substitute' vaccines target more variable subcapsular protein antigens.  A successful approach using outer membrane vesicles (OMVs) as major vaccine components had limited strain coverage. In 4CMenB (Bexsero ®), recombinant proteins have been added to ameliorate this problem.  Methods: Here, scalable, portable, genomic techniques were used to investigate the Bexsero ® OMV protein diversity in meningococcal populations. Shotgun proteomics identified 461 proteins in the OMV, defining a complex proteome. Amino acid sequences for the 24 proteins most likely to be involved in cross-protective immune responses were catalogued within the PubMLST.org/neisseria database using a novel OMV peptide Typing (OMVT) scheme. Results: Among these proteins there was variation in the extent of diversity and association with meningococcal lineages, identified as clonal complexes (ccs), ranging from the most conserved peptides (FbpA, NEISp0578, and putative periplasmic protein, NEISp1063) to the most diverse (TbpA, NEISp1690).  There were 1752 unique OMVTs identified amongst 2492/3506 isolates examined by whole-genome sequencing (WGS). These OMVTs were grouped into clusters (sharing ≥18 identical OMVT peptides), with 45.3% of isolates assigned to one of 27 OMVT clusters. OMVTs and OMVT clusters were strongly associated with cc, genogroup, and Bexsero ® antigen variants, demonstrating that combinations of OMV proteins exist in discrete, non-overlapping combinations associated with genogroup and Bexsero ® Antigen Sequence Type. This highly structured population of IMD-associated meningococci is consistent with strain structure models invoking host immune selection. Conclusions: The OMVT scheme facilitates region-specific WGS investigation of meningococcal diversity and is an open-access, portable tool with applications for vaccine development, especially in the choice of antigen combinations, assessment and implementation.
    Keywords:  Neisseria meningitidis; OMV; Outer membrane vesicle; diversity; invasive meningococcal disease; meningococcal; proteomics; typing; vaccines
    DOI:  https://doi.org/10.12688/wellcomeopenres.14859.1
  25. Transl Stroke Res. 2019 Jan 31.
      This study aimed to investigate whether serum lactate dehydrogenase (LDH) levels predicted hematoma expansion and poor outcomes in intracerebral hemorrhage (ICH) patients. The differentially expressed proteins between patients with and without hematoma expansion were screened using proteomic analysis. Then the critical value of the target protein was determined by retrospectively analyzing the data from a derivation cohort. A prospective study on the validation cohort of three clinical centers was performed to investigate the association between the target protein and hematoma expansion and poor outcomes (modified Rankin Scale > 3) at 90 days by using univariate and multivariate logistic regression analyses. Among the 41 differentially expressed proteins, LDH A chain was upregulated, which is one of the two main subunits of LDH protein. Considering that it was easy to determine serum LDH levels, LDH was selected as the target protein. In the derivation cohort, LDH ≥ 220 U/L was selected as the critical value to predict hematoma expansion by using receiver operating characteristic analysis. A total of 366 ICH patients were enrolled in the validation cohort and LDH ≥ 220 U/L was positive in 127 patients (34.7%). The multivariate logistic regression analysis demonstrated LDH levels and LDH ≥ 220 U/L independently predicted hematoma expansion (p < 0.001) and poor outcomes (p < 0.001). The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of LDH ≥ 220 U/L for hematoma expansion and poor outcome prediction were 79.1%, 80.0%, 56.7%, 92.1%, and 79.8% and 53.3%, 78.2%, 63.0%, 70.7%, and 68.0%, respectively. In conclusion, LDH is a reliable predictor for early hematoma expansion and poor outcomes in patients with ICH.
    Keywords:  Hematoma expansion; Intracerebral hemorrhage; Lactate dehydrogenase; Poor outcomes; Proteomic analysis
    DOI:  https://doi.org/10.1007/s12975-019-0686-7
  26. Proteomics Clin Appl. 2019 Feb 01. e1800199
      The recently implemented General Data Protection Regulation (GDPR) has promising attributes for ensuring the protection of personal data collected and processed for clinical proteomic investigations. However, there exist ever increasing alarming concerns regarding its implications upon the future of clinical proteomics research both within and beyond the European Union. The main issues of concern regard GDPR legislative requirements for informed consent for study subjects' data collection and processing, data anonymization, and data storage and/or sharing, particularly in research areas which readily utilize databanks and biobanks, such as clinical proteomics investigations. The potential impacts of the aforementioned issues upon on-going and future clinical proteomics investigations are detailed, whilst recommendations for potentially resolving these emerging issues are proposed. Consensus between government, legislative, and research stakeholders, as well as impact assessments of final measures to be applied for medical research, is necessary so as to ensure the favorable perpetuation of clinical proteomics investigations and subsequent impact upon optimal patient health. This article is protected by copyright. All rights reserved.
    Keywords:  GDPR; clinical proteomics; medical research
    DOI:  https://doi.org/10.1002/prca.201800199
  27. Int J Mol Sci. 2019 Jan 25. pii: E514. [Epub ahead of print]20(3):
      Although many cardioprotective strategies have demonstrated benefits in animal models of myocardial infarction, they have failed to demonstrate cardioprotection in the clinical setting highlighting that new therapeutic target and treatment strategies aimed at reducing infarct size are urgently needed. Completion of the Human Genome Project in 2001 fostered the post-genomic research era with the consequent development of high-throughput "omics" platforms including transcriptomics, proteomics, and metabolomics. Implementation of these holistic approaches within the field of cardioprotection has enlarged our understanding of ischemia/reperfusion injury with each approach capturing a different angle of the global picture of the disease. It has also contributed to identify potential prognostic/diagnostic biomarkers and discover novel molecular therapeutic targets. In this latter regard, "omic" data analysis in the setting of ischemic conditioning has allowed depicting potential therapeutic candidates, including non-coding RNAs and molecular chaperones, amenable to pharmacological development. Such discoveries must be tested and validated in a relevant and reliable myocardial infarction animal model before moving towards the clinical setting. Moreover, efforts should also focus on integrating all "omic" datasets rather than working exclusively on a single "omic" approach. In the following manuscript, we will discuss the power of implementing "omic" approaches in preclinical animal models to identify novel molecular targets for cardioprotection of interest for drug development.
    Keywords:  -omics; cardioprotection; chaperones; ncRNA; post-genomics; targets
    DOI:  https://doi.org/10.3390/ijms20030514
  28. Cancers (Basel). 2019 Jan 29. pii: E155. [Epub ahead of print]11(2):
      Substantial alterations at the multi-omics level of pancreatic cancer (PC) impede the possibility to diagnose and treat patients in early stages. Herein, we conducted an integrative omics-based translational analysis, utilizing next-generation sequencing, transcriptome meta-analysis, and immunohistochemistry, combined with statistical learning, to validate multiplex biomarker candidates for the diagnosis, prognosis, and management of PC. Experiment-based validation was conducted and supportive evidence for the essentiality of the candidates in PC were found at gene expression or protein level by practical biochemical methods. Remarkably, the random forests (RF) model exhibited an excellent diagnostic performance and LAMC2, ANXA2, ADAM9, and APLP2 greatly influenced its decisions. An explanation approach for the RF model was successfully constructed. Moreover, protein expression of LAMC2, ANXA2, ADAM9, and APLP2 was found correlated and significantly higher in PC patients in independent cohorts. Survival analysis revealed that patients with high expression of ADAM9 (Hazard ratio (HR)OS = 2.2, p-value < 0.001), ANXA2 (HROS = 2.1, p-value < 0.001), and LAMC2 (HRDFS = 1.8, p-value = 0.012) exhibited poorer survival rates. In conclusion, we successfully explore hidden biological insights from large-scale omics data and suggest that LAMC2, ANXA2, ADAM9, and APLP2 are robust biomarkers for early diagnosis, prognosis, and management for PC.
    Keywords:  diagnostic biomarker; machine learning; meta-analysis; next-generation sequencing; pancreatic ductal adenocarcinoma; prognostic biomarker; systems biology; transcriptomics
    DOI:  https://doi.org/10.3390/cancers11020155
  29. Expert Rev Vaccines. 2019 Jan 31.
      INTRODUCTION: Emerging infectious diseases are a major threat to public health, and while vaccines have proven to be one of the most effective preventive measures for infectious diseases, we still do not have safe and effective vaccines against many human pathogens, and emerging diseases continually pose new threats. The purpose of this review is to discuss how the creation of vaccines for these new threats has been hindered by limitations in the current approach to vaccine development. Recent advances in high-throughput technologies have enabled scientists to apply systems biology approaches to collect and integrate increasingly large datasets that capture comprehensive biological changes induced by vaccines, and then decipher the complex immune response to those vaccines. Areas covered: This review covers advances in these technologies and recent publications that describe systems biology approaches to understanding vaccine immune responses and to understanding the rational design of new vaccine candidates. Expert opinion: Systems biology approaches to vaccine development provide novel information regarding both the immune response and the underlying mechanisms and can inform vaccine development.
    Keywords:  gene expression profiling; genomics; immunology; proteomics; systems biology; vaccination; vaccine development; vaccines; viral vaccines
    DOI:  https://doi.org/10.1080/14760584.2019.1575208
  30. Clin Biochem. 2019 Jan 23. pii: S0009-9120(18)31114-7. [Epub ahead of print]
      BACKGROUND: Recent advances in mass spectrometric instrumentation and bioinformatics have critically contributed to the field of proteogenomics. Nonetheless, whether that integrative approach has reached the point of maturity to effectively reveal the flow of genetic variants from DNA to proteins still remains elusive. The objective of this study was to detect somatically acquired protein variants in breast cancer specimens for which full genome and transcriptome data was already available (BASIS cohort).METHODS: LC-MS/MS shotgun proteomic results of 21 breast cancer tissues were coupled to DNA sequencing data to identify variants at the protein level and finally were used to associate protein expression with gene expression levels.
    RESULTS: Here we report the observation of three sequencing-predicted single amino acid somatic variants. The sensitivity of single amino acid variant (SAAV) detection based on DNA sequencing-predicted single nucleotide variants was 0.4%. This sensitivity was increased to 0.6% when all the predicted variants were filtered for MS "compatibility" and was further increased to 2.9% when only proteins with at least one wild type peptide detected were taken into account. A correlation of mRNA abundance and variant peptide detection revealed that transcripts for which variant proteins were detected ranked among the top 6.3% most abundant transcripts. The variants were detected in highly abundant proteins as well, thus establishing transcript and protein abundance and MS "compatibility" as the main factors affecting variant onco-proteogenomic identification.
    CONCLUSIONS: While proteomics fails to identify the vast majority of exome DNA variants in the resulting proteome, its ability to detect a small subset of SAAVs could prove valuable for precision medicine applications.
    Keywords:  Breast cancer; LC-MS/MS; Onco-proteogenomics; Somatic mutations; Variant peptides
    DOI:  https://doi.org/10.1016/j.clinbiochem.2019.01.005
  31. Cancers (Basel). 2019 Jan 25. pii: E143. [Epub ahead of print]11(2):
      As dissemination through blood and lymph is the critical step of the metastatic cascade, circulating tumour cells (CTCs) have attracted wide attention as a potential surrogate marker to monitor progression into metastatic disease and response to therapy. In patients with invasive breast carcinoma (IBC), CTCs are being considered nowadays as a valid counterpart for the assessment of known prognostic and predictive factors. Molecular characterization of CTCs using protein detection, genomic and transcriptomic panels allows to depict IBC biology. Such molecular profiling of circulating cells with increased metastatic abilities appears to be essential, especially after tumour resection, as well as in advanced disseminated disease, when information crucial for identification of therapeutic targets becomes unobtainable from the primary site. If CTCs are truly representative of primary tumours and metastases, characterization of the molecular profile of this easily accessible 'biopsy' might be of prime importance for clinical practice in IBC patients. This review summarizes available data on feasibility and documented benefits of monitoring of essential IBC biological features in CTCs, with special reference to multifactorial proteomic, genomic, and transcriptomic panels of known prognostic or predictive value.
    Keywords:  circulating tumour cells; gene signatures; invasive breast cancer; predictive/prognostic multiparametric panels; single cells analysis
    DOI:  https://doi.org/10.3390/cancers11020143
  32. Med Princ Pract. 2019 Jan 27.
      The concept of precision medicine is becoming increasingly popular. The use of big data, genomics and other 'omics' like metabolomics, proteomics and trancriptomics could make the dream of personalized medicine become a reality in the near future. As far as polygenic forms of diabetes like type 2 diabetes (T2DM) and type 1 diabetes (T1DM) are concerned, interesting leads are emerging, but precision diabetes is still in its infancy. However, with regard to monogenic forms of diabetes like Maturity-Onset-diabetes of the young (MODY) and Neonatal Diabetes Mellitus (NDM), rapid strides have been made and precision diabetes has already become part of the clinical tools used at advanced diabetes centres. In patients with some monogenic forms of diabetes, if the appropriate gene defects are identified, insulin injections can be stopped and they can be replaced with oral sulphonylurea (SU) drugs. In the coming years, rapid strides can be expected to be made in the field of precision diabetes, thereby making the control of diabetes more effective and hopefully leading to prevention of its complications and improvement of the quality of life of people afflicted with diabetes.
    DOI:  https://doi.org/10.1159/000497241
  33. Transl Psychiatry. 2019 Jan 31. 9(1): 56
      Nearly 95% of susceptibility SNPs identified by genome-wide association studies (GWASs) are located in non-coding regions, which causes a lot of difficulty in deciphering their biological functions on disease pathogenesis. Here, we aimed to conduct a comprehensive functional annotation for all the schizophrenia susceptibility loci obtained from GWASs. Considering varieties of epigenomic regulatory elements, we annotated all 22,688 acquired susceptibility SNPs according to their genomic positions to obtain functional SNPs. The comprehensive annotation indicated that these functional SNPs are broadly involved in diverse biological processes. Histone modification enrichment showed that H3K27ac, H3K36me3, H3K4me1, and H3K4me3 were related to the development of schizophrenia. Transcription factors (TFs) prediction, methylation quantitative trait loci (meQTL) analyses, expression quantitative trait loci (eQTL) analyses, and proteomic quantitative trait loci analyses (pQTL) identified 447 target protein-coding genes. Subsequently, differential expression analyses between schizophrenia cases and controls, nervous system phenotypes from mouse models, and protein-protein interaction with known schizophrenia-related pathways and genes were carried out with our target genes. We finaly prioritized 10 target genes for schizophrenia (CACNA1C, CLU, CSNK2B, GABBR1, GRIN2A, MAPK3, NOTCH4, SRR, TNF, and SYNGAP1). Our results may serve as an encyclopedia of schizophrenia susceptibility SNPs and offer holistic guides for post-GWAS functional experiments.
    DOI:  https://doi.org/10.1038/s41398-019-0398-5
  34. Stat Appl Genet Mol Biol. 2019 Jan 26. pii: /j/sagmb.ahead-of-print/sagmb-2018-0028/sagmb-2018-0028.xml. [Epub ahead of print]
      Advancement in next-generation sequencing, transcriptomics, proteomics and other high-throughput technologies has enabled simultaneous measurement of multiple types of genomic data for cancer samples. These data together may reveal new biological insights as compared to analyzing one single genome type data. This study proposes a novel use of supervised dimension reduction method, called sliced inverse regression, to multi-omics data analysis to improve prediction over a single data type analysis. The study further proposes an integrative sliced inverse regression method (integrative SIR) for simultaneous analysis of multiple omics data types of cancer samples, including MiRNA, MRNA and proteomics, to achieve integrative dimension reduction and to further improve prediction performance. Numerical results show that integrative analysis of multi-omics data is beneficial as compared to single data source analysis, and more importantly, that supervised dimension reduction methods possess advantages in integrative data analysis in terms of classification and prediction as compared to unsupervised dimension reduction methods.
    Keywords:  Integrative genomic analysis; sliced inverse regression; sufficient dimension reduction
    DOI:  https://doi.org/10.1515/sagmb-2018-0028
  35. Acta Ophthalmol. 2019 Jan 27.
      PURPOSE: Primary vitreoretinal lymphoma [(P)VRL]) is a rare malignancy of the eye localized in the retina, vitreous or choroid. Here, we aim to determine the value of the combination of innovative diagnostic methods for accurate differentiation between (P)VRL and non-(P)VRL in patients with suspect uveitis or vitritis.METHODS: Multicolour flow cytometric immunophenotyping of cells in the vitreous samples was performed using the EuroFlow small sample tube. Additionally, cytokines/chemokines and growth factors were measured in the vitreous specimens using a multiplex immunoassay. Data were evaluated in predefined clinical subgroups using omniviz unsupervised Pearson's correlation visualization and unsupervised heatmap analysis.
    RESULTS: A total of 53 patients were prospectively included in the period 2012-2015. In the (P)VRL subgroup (n = 10), nine cases showed aberrant surface membrane immunoglobulin (SmIg) light chain expression. In the non-(P)VRL group (n = 43) clearly skewed SmIg light chain expression was observed in two multiple sclerosis-related uveitis cases, but not in other uveitis types. Soluble mediator measurement revealed high interleukin (IL)-10/IL-6 ratios, and high IL-1RA levels in 9/10 (P)VRL cases, but not in any non-(P)VRL case. Further correlation and heatmap analysis revealed a minimal signature of cellular parameters (CD19+ B cells, aberrant SmIg light chain expression) and cytokine parameters (IL-10/IL-6 ratio >1, high IL-10, high IL-1 RA, high monocyte chemotactic protein-1, high macrophage inflammatory protein-1β) to reliably distinguish (P)VRL from non-(P)VRL.
    CONCLUSION: Here, we show the power of a combined cellular and proteomics strategy for detecting (P)VRL in vitreous specimens, especially in cases with minor cellular (P)VRL infiltrates.
    Keywords:  diagnostics; immunology; multiparameter flow cytometry; soluble mediators; uveitis; vitreoretinal lymphoma
    DOI:  https://doi.org/10.1111/aos.14036