Marisa Wexler, MS,  senior science writer—

A newly-opened nonprofit called Shark Tooth Cycling aims to encourage young people in the U.S., especially those affected by Charcot-Marie-Tooth disease (CMT), to get outdoors and ride their bikes. Much like other cycling organizations — such as the diabetes-focused cycling group Team Type 1 — the Pittsburgh, Colorado foundation will work to…

Mutations in the gene HARS1, which are a cause of Charcot-Marie-Tooth disease (CMT), result in reduced protein production in neurons — providing a possible mechanism for how these mutations cause disease — a recent study found. The findings were published in The FEBS Journal, in a study titled…

DTx Pharma has discovered new molecules that could be treatment candidates for Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A), reaching the second milestone of a study designed to find molecules that lower PMP22 levels. The milestone was announced in a press release from the CMT…

Problems with energy production and mitochondria, the powerhouses of cells, may be the underlying cause of an X-linked form of Charcot-Marie-Tooth disease (CMT) called CMTX6, a study in patient-derived motor neurons suggests. The study, “Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor…

Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for the problems with myelin that characterize the disease, a study found. The findings suggest that mTORC1 may be a viable therapeutic target in CMT4B, the…

People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused by problems with the nerve cells that carry signals from the ears to the brain, a study suggests. The study, “Psychoacoustics and neurophysiological auditory processing in patients…

Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important in identifying new mutations that cause Charcot-Marie-Tooth disease (CMT), a study reports. The study, “Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a…

A newly identified mutation in the MCM3AP gene caused Charcot-Marie-Tooth disease (CMT) in a girl with early motor development delay, a study reports. Findings also suggest that mutations in this gene that result in no functional MCM3 protein are associated with more severe symptoms, including a delayed…

A yeast model could be used to assess the biological consequences of mutations in the GDAP1  gene, which can cause Charcot-Marie-Tooth type 4A (CMT4A). The model was described in “Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model,” a study published in the journal Genes.

New genetic technologies like whole-exome sequencing can be used to more quickly diagnose specific subtypes of Charcot-Marie-Tooth disease (CMT), helping patients avoid unnecessary treatments, a recent case series reports. The study, “Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes,” was…