bims-meglyc Biomed News
on Metabolic disorders affecting glycosylation
Issue of 2023–01–08
thirteen papers selected by
Silvia Radenkovic, Frontiers in Congenital Disorders of Glycosylation Consortium



  1. J Coll Physicians Surg Pak. 2022 12;32(12): SS221-SS226
      Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. Although CDGs are not directly related to malignancies, it is well known that some genes that are involved in glycosylation pathways are involved in various cancers. Aberrant glycosylation has been closely linked to the development and progression of brain cancer. We report a patient with SRD5A3-CDG carrying a novel homozygous splice variant and brain neoplasm. Also, a review of the literature is made regarding the multisystem effects of the disease. Key Words: SRD5A3-CDG, Glioma, Glycosylation, Transferrin isoelectric focusing, Congenital disorders of glycosylation.
    DOI:  https://doi.org/10.29271/jcpsp.2022.Supp.S221
  2. J Clin Invest. 2023 Jan 03. pii: e163838. [Epub ahead of print]133(1):
      Most proteins destined for the extracellular space or various intracellular compartments must traverse the intracellular secretory pathway. The first step is the recruitment and transport of cargoes from the endoplasmic reticulum (ER) lumen to the Golgi apparatus by coat protein complex II (COPII), consisting of five core proteins. Additional ER transmembrane proteins that aid cargo recruitment are referred to as cargo receptors. Gene duplication events have resulted in multiple COPII paralogs present in the mammalian genome. Here, we review the functions of each COPII protein, human disorders associated with each paralog, and evidence for functional conservation between paralogs. We also provide a summary of current knowledge regarding two prototypical cargo receptors in mammals, LMAN1 and SURF4, and their roles in human health and disease.
    DOI:  https://doi.org/10.1172/JCI163838
  3. RSC Adv. 2022 Dec 19. 13(1): 264-280
      The enzymatic modification of protein serine or threonine residues by N-acetylglucosamine, namely O-GlcNAcylation, is a ubiquitous post-translational modification that frequently occurs in the nucleus and cytoplasm. O-GlcNAcylation is dynamically regulated by two enzymes, O-GlcNAc transferase and O-GlcNAcase, and regulates nearly all cellular processes in epigenetics, transcription, translation, cell division, metabolism, signal transduction and stress. Aberrant O-GlcNAcylation has been shown in a variety of diseases, including diabetes, neurodegenerative diseases and cancers. Deciphering O-GlcNAcylation remains a challenge due to its low abundance, low stoichiometry and extreme lability in most tandem mass spectrometry. Separation or enrichment of O-GlcNAc proteins or peptides from complex mixtures has been of great interest because quantitative analysis of protein O-GlcNAcylation can elucidate their functions and regulatory mechanisms in disease. However, valid and specific analytical methods are still lacking, and efforts are needed to further advance this direction. Here, we provide an overview of recent advances in various analytical methods, focusing on chemical oxidation, affinity of antibodies and lectins, hydrophilic interaction, and enzymatic addition of monosaccharides in conjugation with these methods. O-GlcNAcylation quantification has been described in detail using mass-spectrometric or non-mass-spectrometric techniques. We briefly summarized dysregulated changes in O-GlcNAcylation in disease.
    DOI:  https://doi.org/10.1039/d2ra07184c
  4. J Coll Physicians Surg Pak. 2022 12;32(12): SS134-SS136
      Pompe disease, also known as Glycogen Storage Disease Type II, is a rare disorder of glucose metabolism caused by congenital acid alpha-glucosidase (GAA) deficiency. A large amount of glycogen accumulates in the lysosomes, causing these to swell and rupture. Its incidence is about 1 in 40,000 to 1 in 50,000 newborns. The main features are hypotonia and cardiomyopathy. Only a few clinical cases of Pompe disease have been reported, and appendicular torsion has rarely been observed. Herein, we report a case of Pompe disease combined with appendicular torsion, both of which were diagnosed on autopsy pathology. The clinical diagnosis of this disease is difficult in developing countries, and it is mostly misdiagnosed as other types of heart disease. Once the clinical symptoms worsen, most of them die within a short period. Therefore, screening for neonatal genetic metabolic diseases for early diagnosis and treatment should be carried out. Key Words: Glycogen storage disease type II, Metabolic disease, Enzyme replacement therapy, Neonatal screening.
    DOI:  https://doi.org/10.29271/jcpsp.2022.Supp.S134
  5. Methods Mol Biol. 2023 ;2613 289-299
      Glycosphingolipids (GSLs) are glycolipids with ceramide and carbohydrate head groups that play an important role in numerous biological processes. Previously, we performed GSL-glycan analysis of various cell lines and virus-infected cells using a glycoblotting approach. Recently, we developed several methods for sialic acid linkage-specific chemical modification to distinguish sialylated glycan isomers by mass spectrometry. In this chapter, we describe a method for analyzing GSL-glycans in human serum/plasma using glycoblotting combined with aminolysis-SALSA (sialic acid linkage-specific alkylamidation) and lactone-driven ester-to-amide derivatization (LEAD)-SALSA for comprehensive and detailed structural glycomics.
    Keywords:  Glycoblotting; Glycosphingolipid-glycan; Human plasma; Human serum; Lactone-driven ester-to-amide derivatization; Mass spectrometry; Sialic acid linkage-specific alkylamidation
    DOI:  https://doi.org/10.1007/978-1-0716-2910-9_21
  6. Am J Med Genet C Semin Med Genet. 2023 Jan 03.
      Recent advancements in gene-targeted therapies have highlighted the critical role data sharing plays in successful translational drug development for people with rare diseases. To scale these efforts, we need to systematize these sharing principles, creating opportunities for more rapid, efficient, and scalable drug discovery/testing including long-term and transparent assessment of clinical safety and efficacy. A number of challenges will need to be addressed, including the logistical difficulties of studying rare diseases affecting individuals who may be scattered across the globe, scientific, technical, regulatory, and ethical complexities of data collection, and harmonization and integration across multiple platforms and contexts. The NCATS/NIH Gene-Targeted Therapies: Early Diagnosis and Equitable Delivery meeting series held during June 2021 included data sharing models that address these issues and framed discussions of areas that require improvement. This article describes these discussions and provides a series of considerations for future data sharing.
    DOI:  https://doi.org/10.1002/ajmg.c.32028
  7. Methods Mol Biol. 2023 ;2614 397-409
      Large-scale genetic screens are becoming increasingly used as powerful tools to query the genome to identify therapeutic targets in cancer. The advent of the CRISPR technology has revolutionized the effectiveness of these screens and has made it possible to carry out loss-of-function screens to identify cancer-specific genetic interactions. Such loss-of-function screens can be performed in silico, in vitro, and in vivo, depending on the scale of the screen, as well as research questions to be answered. Performing screens in vivo has its challenges but also advantages, providing opportunities to study the tumor microenvironment and cancer immunity. In this chapter, we present a procedural framework and associated notes for conducting in vivo CRISPR knockout screens in cancer models to study cancer biology, anti-tumor immune responses, tumor microenvironment, and predicting treatment responses.
    Keywords:  CRISPR-Cas9 screen; In vivo screen; Pooled screen; Synthetic lethality
    DOI:  https://doi.org/10.1007/978-1-0716-2914-7_24
  8. Am J Physiol Heart Circ Physiol. 2023 Jan 06.
      
    Keywords:  CaMKII; O-GlcNAcylation; calcium; calcium handling; empagliflozin
    DOI:  https://doi.org/10.1152/ajpheart.00003.2023
  9. Adv Exp Med Biol. 2022 ;1393 141-156
      Tumor resistance and recurrence have been associated with the presence of cancer stem cells (CSCs) in tumors. The functions and survival of the CSCs have been associated with several intracellular and extracellular features. Particularly, the abnormal glycosylation of these signaling pathways and markers of CSCs have been correlated with maintaining survival, self-renewal and extravasation properties. Here, we highlight the importance of glycosylation in promoting the stemness character of CSCs and the current strategies for targeting abnormal glycosylation toward generating effective therapies against the CSC population.
    Keywords:  Cancer stem cells; Glycosylation; Phenylboronic acid; Signaling pathways
    DOI:  https://doi.org/10.1007/978-3-031-12974-2_7
  10. Rev Neurol (Paris). 2022 Dec 30. pii: S0035-3787(22)00845-1. [Epub ahead of print]
      Charcot-Marie-Tooth (CMT) is a heterogeneous group of inherited neuropathies that affect the peripheral nerves and slowly cause progressive disability. Currently, there is no effective therapy. Patients' management is based on rehabilitation and occupational therapy, fatigue, and pain treatment with regular follow-up according to the severity of the disease. In the last three decades, much progress has been made to identify mutations involved in the different types of CMT, decipher the pathophysiology of the disease, and identify key genes and pathways that could be targeted to propose new therapeutic strategies. Genetic therapy is one of the fields of interest to silence genes such as PMP22 in CMT1A or to express GJB1 in CMT1X. Among the most promising molecules, inhibitors of the NRG-1 axis and modulators of UPR or the HDACs enzyme family could be used in different types of CMT.
    Keywords:  Charcot Marie Tooth; Gene therapy; Inherited neuropathy; Management; Therapy
    DOI:  https://doi.org/10.1016/j.neurol.2022.11.006
  11. Curr Dir Psychol Sci. 2022 Dec;31(6): 480-485
      Human genetics is advancing at an unprecedented pace. Improvements in genotyping technology and rapidly falling costs have accelerated gene discovery. We can now comprehensively scan the genome, testing variation across millions of genetic markers, to identify specific variants associated with any outcome of interest. Large consortia consisting of hundreds of scientists are analyzing data from hundreds of thousands to millions of individuals. Multivariate methods now enable us to identify genes involved in underlying processes, to complement studies focused on specific disorders or traits. There has been an exponential increase in use of direct-to-consumer genetic feedback platforms. These advances are poised to have a widespread effect on medicine and society. However, with such rapid progress will come ethical, social, and legal challenges. Among those challenges is the need for increased efforts to enhance public understanding of the ways genes contribute to complex behavioral outcomes, and for increased diversity in the field of genetics to ensure that all people benefit from advances. Psychologists can play an important role in addressing the inevitable questions that will arise as genetics increasingly becomes mainstream.
    Keywords:  behavior genetics; gene identification; genetics
    DOI:  https://doi.org/10.1177/09637214221112041