Charcot-Marie-Tooth Disease (CMT)
A.) CMT Overview
Charcot-Marie-Tooth disease (CMT) is an inherited, genetically heterogeneous disease causing degeneration of motor and/or sensory axons, causing slowly progressive peripheral neuropathy. Over 130 genes are now known to cause different forms of CMT, and many of these genes regulate organelle trafficking events within neurons. We can quickly study the effects of CMT mutations in Drosophila models to understand how mutations cause disease.
Using a Drosophila model of CMT type 2C, caused by mutations in the TRPV4 gene, we have found that TRPV4-mediated neuropathy is caused by increased calcium leading to a block in axonal transport of mitochondria.
