Author Archives: Marisa Wexler MS

Scientists Find Way to Create Models of CMT Motor Neurons for Research

A new protocol allows researchers to generate spinal motor neurons derived from Charcot-Marie-Tooth disease (CMT) patients, creating useful models for better understanding the disease and investigating responses to potential therapies. The protocol was described in “Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem…

Problems with Mitochondria of Neurons May Underlie CMTX6, Study Finds

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…

Copy Number Variations Helpful in Spotting Potential CMT Mutations

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…

New MCM3AP Gene Mutation Linked to CMT in Chinese Girl

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…

Yeast Model May Help Assess CMT4A Mutations

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.