Researchers have identified molecular consequences of mutations in the MORC2 gene — one of the genes that may cause Charcot-Marie Tooth (CMT) disease. The mutations, researchers at the University of Cambridge in the U.K. showed, cause alterations in what is known as epigenetic silencing, which is a mechanism for…
A new mutation that caused Charcot-Marie-Tooth disease type 4J (CMT4J) — a severe form of the condition — has been described by researchers at McGill University in Canada. The mutation was found to cause abnormal processing of cell vesicles and cells surface proteins, insights that may advance efforts to…
Most people with Charcot-Marie-Tooth (CMT) disease do not receive physical or occupational therapy, despite having extensive problems with physical functioning that limit mobility and quality of life, according to a report presented at the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Annual Meeting in Phoenix, Arizona,…
Researchers have uncovered how mutations in the peripheral myelin protein P2 — recently linked to the development of Charcot-Marie-Tooth (CMT) disease — might impact myelin formation to cause the disease. P2 is part of the myelin sheath, where it acts to transfer fatty acids to and from nerve cell membranes…
Researchers have identified molecular abnormalities in cells found during embryonic nerve development that are common to patients with demyelinating Charcot–Marie–Tooth (CMT) disease caused by three different mutations. The findings advance the understanding of how the disease develops, and “further studies focusing on the common molecular signature in demyelinating CMT could reveal a…
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