Charcot Marie Tooth Disease type 2AÂ can beÂ caused by mutations in mitofusin 2 (MFN2), which encodes for a mitochondrial membrane protein involved in mitochondrial fusion. Other subgroups of CMT, including CMT withÂ optic atrophy, pyrimidal tract disease,Â or cerebral white matter disease,Â can also be caused byÂ mutations in MFN2 (Ouvrier et al., Dev Med Child Neurol,Â 2010 Apr;52(4):328-30.).
Abnormalities in mitochondrial fusion and fission are a fascinating mechanism for human disease, and IÂ Â thinkÂ we are only beginning to scratch the surface of disorders involved in thisÂ mechanism.
Hilary Vernon, MD PhD