bims-bicyki Biomed News
on Bicaudal-C1 and interactors in cystic kidney disease
Issue of 2022–04–17
eleven papers selected by
Céline Gagnieux, École Polytechnique Fédérale de Lausanne
  1. Polycystic Kidney Disease in the Real World.
  2. Supine PCNL in autosomal dominant polycystic kidney disease.
  3. Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance.
  4. Autosomal Dominant Polycystic Kidney Disease Prevalence among a Racially Diverse United States Population, 2002 through 2018.
  5. Primary cilia in the postnatal brain: Subcellular compartments for organizing neuromodulatory signaling.
  6. Transient accumulation and bidirectional movement of KIF13B in primary cilia.
  7. Structure of the ciliogenesis-associated CPLANE complex.
  8. Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
  9. In Mitosis You Are Not: The NIMA Family of Kinases in Aspergillus, Yeast, and Mammals.
  10. Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease.
  11. Kidney length standardized to body length predicts outcome in infants with a solitary functioning kidney.
  1. Kidney360. 2021 Dec 30. 2(12): 1882-1883
    Polycystic Kidney Disease in the Real World.
    Arlene B Chapman, Rita McGill.
      
    Keywords:  United States; autosomal dominant polycystic kidney disease; chronic kidney disease; economic and social conditions; ethnic groups
    DOI:  https://doi.org/10.34067/KID.0007062021
  2. Urologia. 2022 Apr 14. 3915603221091082
    Supine PCNL in autosomal dominant polycystic kidney disease.
    Sunirmal Choudhury, Atar Kasim, Dilip Kumar Pal.
       AIMS AND OBJECTIVES: Standard percutaneous nephrolithotomy (PCNL) has routinely been performed in prone position in autosomal dominant polycystic kidney disease (ADPKD) with nephrolithiasis. The objectives of our present study is to ensure optimum access to the renal collecting system, reducing operative time, and anesthetic morbidity during supine PCNL in ADPKD with nephrolithiasis.
    METHODS: Seven patients were selected randomly. There were no preference for age, gender, size, location and laterality of stone, or BMI . All the patients fit into the AUA guideline criteria for management by percutaneous nephrolithotomy. Preoperative, perioperative, and follow up data were collected prospectively.
    RESULTS: Seven patients underwent supine PCNL in approximately 2.5 year in modified supine position. There was no intraoperative, post operative, or on follow up complications in any patient. In all the patients stones were cleared completely in single sitting.
    CONCLUSIONS: Supine PCNL in ADPKD with nephrolithiasis is an alternative with similar outcomes to the standard prone PCNL. It provides an additional benefit of performing the procedure in a single position, which is known to reduce total operating time, less anesthesia related complications, less neuromusculoskeletal injury, and reduce physical strain on operating.
    Keywords:  American urological association; Autosomal dominant polycystic kidney disease; Total operating time; modified supine position; percutaneous nephrolithotomy
    DOI:  https://doi.org/10.1177/03915603221091082
  3. Cureus. 2022 Mar;14(3): e22890
    Isolated Persistent Left Superior Vena Cava Associated With Autosomal Dominant Polycystic Kidney Disease (ADPKD): Challenges and Clinical Significance.
    Osama A Samara, Osama Alzoubi, Ahmad M Gharaibeh, Qusai Alnajjar, Izzat Alawwa.
      Persistent left superior vena cava (PLSVC) is the most common venous anomaly of the thorax that usually coexists with the right superior vena cava. However, in a minority of cases, there is only a PLSVC without a right superior vena cava which is called an isolated PLSVC. There are some reported anomalies that can co-occur with PLSVC; yet, none have reported an association with autosomal dominant polycystic kidney disease (ADPKD). In this case report, we describe a 41-year-old man with end-stage renal disease from ADPKD who underwent central venous catheterization (permacath) to initiate hemodialysis. Upon catheterization, a complete right internal jugular vein septum (bicuspid valve) was found, along with an isolated PLSVC that drained directly in the coronary sinus. We demonstrate the multiple challenges encountered during the catheterization procedure and we illustrate the anomaly with detailed images and supplementary videos. Furthermore, we discuss the coexistence of PLSVC with renal anomalies in the context of previous literature. To conclude, interventional radiologists should keep the possibility of PLSVC in mind, especially when difficulties are encountered during catheterization where proper characterization of the PLSVC type and associated anomalies is crucial for tailoring the best management approach. Moreover, an association between venous anomalies including left superior vena cava and renal anomalies may co-exist, and further studies are needed to explore this possible association.
    Keywords:  3d-reconstructiton; adpkd; autosomal dominant polycystic kidney disease; cardiac mri; persistent left superior vena cava
    DOI:  https://doi.org/10.7759/cureus.22890
  4. Kidney360. 2021 Dec 30. 2(12): 2010-2015
    Autosomal Dominant Polycystic Kidney Disease Prevalence among a Racially Diverse United States Population, 2002 through 2018.
    Thet T Aung, Simran K Bhandari, Qiaoling Chen, Fatima T Malik, Cynthia J Willey, Kristi Reynolds, Steven J Jacobsen, John J Sim.
      Among a large racially and ethnically diverse US population, the prevalence of diagnosed ADPKD between 2002 and 2018 was 42.6 per 100,000 persons.ADPKD prevalence (per 100,000) was higher in (non-Hispanic) White (63.2) and Black (73.0) patients compared with Hispanic (39.9) and Asian (48.9) patients.Given the variable penetrance of ADPKD, our findings suggest race may be a factor in the clinical presentation and diagnosis of ADPKD.
    Keywords:  United States; autosomal dominant polycystic kidney; autosomal dominant polycystic kidney disease; cystic kidney disease; electronic health records; epidemiology; genetic kidney disease; prevalence; racial/ethnic diversity
    DOI:  https://doi.org/10.34067/KID.0004522021
  5. Curr Opin Neurobiol. 2022 Apr 08. pii: S0959-4388(22)00027-7. [Epub ahead of print]74 102533
    Primary cilia in the postnatal brain: Subcellular compartments for organizing neuromodulatory signaling.
    Lauren Tereshko, Gina G Turrigiano, Piali Sengupta.
      Primary cilia have well characterized roles in early brain development, relaying signals critical for neurogenesis and brain formation during embryonic stages. Less understood are the contributions of cilia-mediated signaling to postnatal brain function. Several cilia-localized receptors that bind neuropeptides and neurotransmitters endogenous to the brain have been identified in adult neurons, but the functional significance of signaling through these cilia-localized receptors is largely unexplored. Ciliopathic disorders in humans often manifest with neurodevelopmental abnormalities and cognitive deficits. Intriguingly, recent research has also linked several neuropsychiatric disorders and neurodegenerative diseases to ciliary dysfunction. This review summarizes recent evidence suggesting that cilia signaling may dynamically regulate postnatal neuronal physiology and connectivity, and highlights possible links among cilia, neuronal circuitry, neuron survival, and neurological disorders.
    DOI:  https://doi.org/10.1016/j.conb.2022.102533
  6. J Cell Sci. 2022 Apr 11. pii: jcs.259257. [Epub ahead of print]
    Transient accumulation and bidirectional movement of KIF13B in primary cilia.
    Alice Dupont Juhl, Zeinab Anvarian, Stefanie Kuhns, Julia Berges, Jens S Andersen, Daniel Wüstner, Lotte B Pedersen.
      Primary cilia are microtubule-based sensory organelles whose assembly and function rely on the conserved bidirectional intraflagellar transport (IFT) system, which is powered by anterograde kinesin-2 and retrograde cytoplasmic dynein 2 motors. Nematodes additionally employ a cell type-specific kinesin-3 motor, KLP-6, which moves within cilia independently of IFT and regulates ciliary content and function. Here we provide evidence that a KLP-6 homolog, KIF13B, undergoes bursts of bidirectional movement within primary cilia of cultured immortalized human retinal pigment epithelial (hTERT-RPE1) cells. Anterograde and retrograde intraciliary velocities of KIF13B were similar to those of IFT (IFT172-eGFP), but intraciliary movement of KIF13B required its own motor domain and appeared to be cell-type specific. Our work provides the first demonstration of motor-driven, intraciliary movement by a vertebrate kinesin other than kinesin-2 motors.
    Keywords:  Cilia; Extracellular vesicles; Intraflagellar transport; KIF13B; Kinesin-3
    DOI:  https://doi.org/10.1242/jcs.259257
  7. Sci Adv. 2022 Apr 15. 8(15): eabn0832
    Structure of the ciliogenesis-associated CPLANE complex.
    Gerasimos Langousis, Simone Cavadini, Niels Boegholm, Esben Lorentzen, Georg Kempf, Patrick Matthias.
      Dysfunctional cilia cause pleiotropic human diseases termed ciliopathies. These hereditary maladies are often caused by defects in cilia assembly, a complex event that is regulated by the ciliogenesis and planar polarity effector (CPLANE) proteins Wdpcp, Inturned, and Fuzzy. CPLANE proteins are essential for building the cilium and are mutated in multiple ciliopathies, yet their structure and molecular functions remain elusive. Here, we show that mammalian CPLANE proteins comprise a bona fide complex and report the near-atomic resolution structures of the human Wdpcp-Inturned-Fuzzy complex and of the mouse Wdpcp-Inturned-Fuzzy complex bound to the small guanosine triphosphatase Rsg1. Notably, the crescent-shaped CPLANE complex binds phospholipids such as phosphatidylinositol 3-phosphate via multiple modules and a CPLANE ciliopathy mutant exhibits aberrant lipid binding. Our study provides critical structural and functional insights into an enigmatic ciliogenesis-associated complex as well as unexpected molecular rationales for ciliopathies.
    DOI:  https://doi.org/10.1126/sciadv.abn0832
  8. Int J Mol Sci. 2022 Mar 24. pii: 3541. [Epub ahead of print]23(7):
    Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
    Avigail Beryozkin, Ananya Samanta, Prakadeeswari Gopalakrishnan, Samer Khateb, Eyal Banin, Dror Sharon, Kerstin Nagel-Wolfrum.
      Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliary protein which is expressed in photoreceptors, and pathogenic variants in this gene cause retinitis pigmentosa (RP). Applying TRIDs on fibroblasts from RP patients due to PTC in the FAM161A (p.Arg523*) gene may uncover whether TRIDs can restore expression, localization and function of this protein. Fibroblasts from six patients and five age-matched controls were starved prior to treatment with ataluren or gentamicin, and later FAM161A expression, ciliogenesis and cilia length were analyzed. In contrast to control cells, fibroblasts of patients did not express the FAM161A protein, showed a lower percentage of ciliated cells and grew shorter cilia after starvation. Ataluren and Gentamicin treatment were able to restore FAM161A expression, localization and co-localization with α-tubulin. Ciliogenesis and cilia length were restored following Ataluren treatment almost up to a level which was observed in control cells. Gentamicin was less efficient in ciliogenesis compared to Ataluren. Our results provide a proof-of-concept that PTCs in FAM161A can be effectively suppressed by Ataluren or Gentamicin, resulting in a full-length functional protein.
    Keywords:  FAM161A; TRIDs; ataluren; fibroblasts; gentamicin; retinitis pigmentosa; translational read-through drugs
    DOI:  https://doi.org/10.3390/ijms23073541
  9. Int J Mol Sci. 2022 Apr 06. pii: 4041. [Epub ahead of print]23(7):
    In Mitosis You Are Not: The NIMA Family of Kinases in Aspergillus, Yeast, and Mammals.
    Scott Bachus, Drayson Graves, Lauren Fulham, Nikolas Akkerman, Caelan Stephanson, Jessica Shieh, Peter Pelka.
      The Never in mitosis gene A (NIMA) family of serine/threonine kinases is a diverse group of protein kinases implicated in a wide variety of cellular processes, including cilia regulation, microtubule dynamics, mitotic processes, cell growth, and DNA damage response. The founding member of this family was initially identified in Aspergillus and was found to play important roles in mitosis and cell division. The yeast family has one member each, Fin1p in fission yeast and Kin3p in budding yeast, also with functions in mitotic processes, but, overall, these are poorly studied kinases. The mammalian family, the main focus of this review, consists of 11 members named Nek1 to Nek11. With the exception of a few members, the functions of the mammalian Neks are poorly understood but appear to be quite diverse. Like the prototypical NIMA, many members appear to play important roles in mitosis and meiosis, but their functions in the cell go well beyond these well-established activities. In this review, we explore the roles of fungal and mammalian NIMA kinases and highlight the most recent findings in the field.
    Keywords:  DNA damage; NIMA kinases; Nek; cell cycle; ciliogenesis; mitosis
    DOI:  https://doi.org/10.3390/ijms23074041
  10. Stem Cell Res. 2022 Apr 04. pii: S1873-5061(22)00121-0. [Epub ahead of print]61 102772
    Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease.
    Mingyang Sun, Jian Li, Shunlai Shang, Xueyuan Bai, Guangyan Cai, Qinggang Li.
      Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the hepatobiliary ductal plate. We isolated peripheral blood mononuclear cells from a 21-year-old adult female patient carrying a homozygous p.L2665P mutation in the PKHD1 gene and used nonintegrated exogenous in vitro differentiation vectors for reprogramming to obtain human induced pluripotent stem cells. The induced pluripotent stem cells thus established had a normal karyotype, expressed markers of pluripotency, and could differentiate into three germ layers in the body.
    DOI:  https://doi.org/10.1016/j.scr.2022.102772
  11. Pediatr Nephrol. 2022 Apr 12.
    Kidney length standardized to body length predicts outcome in infants with a solitary functioning kidney.
    Douglas G Matsell, Carol Bao, Teagan Po White, Ella Chan, Eli Matsell, Dan Cojocaru, Lydia Bajno, Marisa Catapang.
       BACKGROUND: Infants with a solitary functioning kidney (SFK) are at risk for chronic kidney injury (CKI). Lack of compensatory kidney growth (CKG) is associated with CKI, but measuring CKG is challenging since it is typically reported relative to normal kidneys. This study aims to (1) standardize SFK growth in infants, (2) investigate the relationship between standardized kidney length and clinical outcomes, and (3) use these results to develop a risk-based prediction model and local clinical pathway for SFK care.
    METHODS: This was a quality improvement study of 166 infants with an SFK. Linear regression was used to assess kidney growth from 0 to 180 days of life. Univariate binary regression analysis was used to identify kidney length to body length thresholds associated with the development of CKI, defined as the composite outcome of chronic kidney disease (eGFR < 60 mL/min/1.73 m2), hypertension, or proteinuria.
    RESULTS: Kidneys grew in length from 0 to 180 days, and growth was constant when standardized to body length. Over follow-up, infants with a baseline kidney length to body length ≤ 0.088 were more likely to experience CKI than the rest of the cohort (27 vs. 8%, p = 0.04). Kidney length to body length ≤ 0.088 was also significantly associated with CKI development (OR 4.17, 95% CI 1.14-15.28, p = 0.04).
    CONCLUSIONS: In this study, kidney length to body length ratio was a stable CKG metric over 0-180 days, and a baseline ratio ≤ 0.088 was a risk factor for CKI. Results will aid in developing a practical, point-of-care risk assessment tool, and overarching risk-stratified clinical pathway for infants with an SFK. A higher resolution version of the Graphical abstract is available as Supplementary information.
    Keywords:  Children; Chronic kidney injury; Compensatory kidney growth; Kidney length; Outcome; Solitary functioning kidney
    DOI:  https://doi.org/10.1007/s00467-022-05544-y
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