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| http://dx.doi.org/10.3389/fncel.2016.00049 | DOI Listing |
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Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Eur J Neurol
January 2025
Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye.
Methods: Demographic and clinical findings were recorded.
A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.
Cell Commun Signal
December 2024
CNR Institute of Biochemistry and Cell Biology, Monterotondo, Rome, 00015, Italy.
Connexins (Cxs) are fundamental in cell-cell communication, functioning as gap junction channels (GJCs) that facilitate solute exchange between adjacent cells and as hemichannels (HCs) that mediate solute exchange between the cytoplasm and the extracellular environment. Mutations in the GJB1 gene, which encodes Cx32, lead to X-linked Charcot-Marie-Tooth type 1 (CMTX1), a rare hereditary demyelinating disorder of the peripheral nervous system (PNS) without an effective cure or treatment. In Schwann cells, Cx32 HCs are thought to play a role in myelination by enhancing intracellular and intercellular Ca signaling, which is crucial for proper PNS myelination.
View Article and Find Full Text PDFPhenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Eur J Neurol
January 2025
Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.
Article Synopsis
- * Researchers analyzed data from 275 CMTX1 patients across 13 centers in France, finding that those with mutations in transmembrane domains had more severe symptoms and earlier onset than those with mutations in intracellular or extracellular domains.
- * The findings suggest that the type of genetic mutation not only helps diagnose CMTX1 but also predicts disease severity, emphasizing the need to consider these correlations in upcoming clinical research.
Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage.
J Peripher Nerv Syst
December 2024
Department of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Article Synopsis
- Charcot-Marie-Tooth (CMT) type 1 neuropathies are common inherited disorders affecting the peripheral nervous system, with over 100 associated genes identified but lacking effective treatments.
- A study using Cx32def mice, a model for CMT1X, showed that late-onset voluntary wheel running (VWR) significantly improved functional outcomes, neuromuscular innervation, and axonal health despite advanced disease stages, unlike early-onset exercise which influenced nerve inflammation.
- The findings suggest that physical exercise could be a promising therapeutic option for CMT1 patients even after the onset of disease symptoms, emphasizing its potential benefits in managing the condition.
Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
Neurol India
September 2024
Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Disease, Osmania University, Hyderabad, Telangana, India.
Article Synopsis
- - Charcot-Marie-Tooth disease (CMT) is a complex genetic disorder, and identifying its various subtypes can be challenging due to overlapping symptoms and insufficient family history.
- - A young male suspected of having CMT underwent whole exome sequencing (WES), which identified a specific genetic mutation in the GJB1 gene associated with X-linked CMT (CMTX).
- - The WES revealed a novel hemizygous missense variation that changes cysteine to arginine at a specific position in the GJB1 gene, enhancing the understanding of genetic causes of CMT.
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