Too much glycosylation, a protein modification process, may underlie the effects of some mutations in the MPZÂ gene, the gene responsible for Charcot-Marie-Tooth disease type 1B (CMT1B), a study found. Suggestions this might be the case were supported by findings from a new mouse model of CMT1B, in which a…
From switching out Facebook frames and viewing educational videos, to attending “band” exercise classes and rounding up purchases to the next dollar to benefit research and community programming, supporters are marking Charcot-Marie-Tooth (CMT) Awareness Month, observed every September. According to advocates, calling attention to the group of inherited peripheral…
Repeated damage to nerve cells, also called neurons, may explain in part why symptoms appear to develop slowly in patients with a form of Charcot-Marie-Tooth disease type 2 (CMT2) called CMT2P, a study in a mouse model suggests. Researchers suggested this to explain why neurons in mice carrying a…
Rab7A, the faulty enzyme behind Charcot-Marie-Tooth disease type 2B (CMT2B), regulates the structure and movement of mitochondria, the cells’ powerhouses, according to a new study in patient-derived and mouse cells carrying a CMT2B-causing mutation. Also, the mutated Rab7A enzyme was found to promote mitochondrial fragmentation — the breakup of…
A collaboration between Genome Medical and the Hereditary Neuropathy Foundation has led to a virtual initiative that seeks to reduce genetic testing barriers for Charcot-Marie-Tooth (CMT) disease patients. The new Charcot-Marie-Tooth Genie Project genetic testing program aims to provide the CMT community and its healthcare providers with…
Treatment with a protein called alpha-1 antitrypsin (AAT) protects nerve cells and lowers inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. Lab experiments showed that the treatment, derived from human blood (hAAT), may exert its protective effects on nerve cells by preserving…
Piperine — the molecule that gives black pepper its pungent odor — and other chemically similar compounds can enhance cellular processes whose dysfunction are thought to underlie Charcot-Marie-Tooth disease type 2A (CMT2A), a study has found. In their ability to enhance the function of mitochondria — which produce energy…
The CMT Research Foundation (CMTRF) is teaming up with Oryzon Genomics to conduct preclinical testing of treatments that Oryzon is developing for Charcot-Marie-Tooth disease (CMT). “We are excited to collaborate with Oryzon on this important project,” Cleary Simpson, CEO of the foundation, said in a press…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
The CMT Research Foundation has granted over $500,000 to help develop a gene therapy for Charcot-Marie-Tooth disease type 1B (CMT1B). The grant was awarded to Afrooz Rashnonejad, PhD, principal investigator at the Nationwide Children’s Hospital Center for Gene Therapy and a professor at the Ohio State University’s department of…
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