Lindsey Shapiro, PhD, science writer —

A particular mutation in the PMP22 gene, called T118M, is a risk factor for developing a mild form of Charcot-Marie-Tooth disease (CMT) — but it doesn’t always cause the rare disorder, according to a new study. A series of experiments in cell cultures revealed possible reasons why T118M leads to…

Mutations in the SerRS gene — which is critical for protein production — were identified as the cause of Charcot-Marie-Tooth disease (CMT) in three families in China, a study reported. Researchers found that two newly-identified SerRS mutations likely acted to disrupt the process by which proteins are produced from…

Too much glycosylation, a protein modification process, may underlie the effects of some mutations in the MPZ 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…

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…

Treatment with inhibitors of the HDAC6 protein, including the new compound CKD-504, was able to restore proper connections between nerves and muscles and improve movement in zebrafish with low levels of GARS — the gene implicated in Charcot-Marie-Tooth disease type 2D, a study found. The results suggest that HDAC6 blockade may…

A new MME gene mutation was discovered in three members of a large Iranian family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT2), according to a recent case report. The report, “A nonsense mutation in MME gene associates with autosomal recessive late-onset…

Multiple respiratory complications, including a collapsed lung and diaphragm dysfunction, were identified in a man with Charcot-Marie-Tooth disease type 2 (CMT2) that was associated with an MFN2 gene mutation, according to a recent case study. “To our knowledge, this is the first demonstration of a CMT patient carrying an…

A new SCO2 gene mutation was identified in two brothers with Charcot-Marie-Tooth disease (CMT), and likely causes symptoms by disrupting the function of the mitochondria — the cell’s powerhouses — according to a recent case report. The mutation is one of the few described in SCO2 to be associated…

An NEFH gene mutation was identified in three unrelated Japanese families with Charcot-Marie-Tooth (CMT) disease and one family with spinal muscular atrophy (SMA), suggesting they share a common ancestor, a recent study proposes.  The study marks the first case of CMT type…