AI Article Synopsis
- The study focused on the GJB1 gene mutation linked to X-linked Charcot-Marie-Tooth disease in two families.
- Genomic DNA was extracted from blood samples and analyzed using PCR and SSCP methods to identify abnormalities.
- Both families exhibited a specific mutation (622G-->A), leading to a Glu208Lys substitution, which had not been previously reported in China.
Article Abstract
Mutation of GJB1 gene was investigated in two families with X-linked Charcot-Marie-Tooth disease. Genomic DNA from venous blood samples was prepared. The coding sequence of the GJB1 gene was amplified from genomic DNA. PCR products were analyzed by single strand conformational polymorphism (SSCP) method. The PCR product having an abnormal pattern was sequenced to detect the mutation. It was found that the samples of all patients and one little girl with normal phenotype showed an abnormal SSCP band, but not detected in the other unaffected members in the first large family. In the second small family, an abnormal SSCP band was found in all the patients, but not detected in the unaffected member. The result of DNA sequencing demonstrated that both families had a same mutation of 622G-->A, which resulted in a substitution of Glu208Lys. This mutation has not been reported previously in China.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1360/yc-007-0800 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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 PDFICU patient-on-a-chip emulating orchestration of mast cells and cerebral organoids in neuroinflammation.
Commun Biol
December 2024
Department of Bioengineering, Faculty of Engineering, Ege University, Izmir, Türkiye.
Propofol and midazolam are the current standard of care for prolonged sedation in Intensive Care Units (ICUs). However, the effects and mechanism of these sedatives in brain tissue are unclear. Herein, the development of an ICU patient-on-a-chip platform to elucidate those effects is reported.
View Article and Find Full Text PDFComprehensive Analysis of in Breast Cancer: Its Implications in Survival and Molecular Mechanisms.
Anticancer Res
December 2024
Department of Molecular Biology and Genetics, Faculty of Science, Izmir Institute of Technology, Izmir, Türkiye
Background/aim: Breast cancer is the leading cause of cancer-related mortality among women worldwide. The connexin (Cx) family, including GJB1 (Cx32), plays complex roles in tumor progression depending on cellular context and cancer subtype. While Cx32 overexpression has been linked to lymph node metastasis, its effects on survival and molecular processes remain unclear.
View Article and Find Full Text PDFPhysical 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.
Background And Aims: Charcot-Marie-Tooth (CMT) type 1 neuropathies are the most common inherited diseases of the peripheral nervous system. Although more than 100 causative genes have been identified so far, therapeutic options are still missing. We could previously identify that early-onset physical exercise (voluntary wheel running, VWR) dampens peripheral nerve inflammation, improves neuropathological alterations, and clinical outcome in Cx32def mice, a model for CMT1X.
View Article and Find Full Text PDFNovel 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.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!