Abstract
Background: Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Genetic analysis identified more than 75 causative genes from CMT patients, and mutations in mitofusin2 (MFN2) causes CMT2A, which is the main axonal form of CMT. MFN2 is a gene encoding a mitochondorial fusion protein, and is located at the mitochondorial outer membrane. MFN2 has two major roles in cellular level. The first is a mitochondorial fusion. The second is an axonal transport of mitochondria. Although several studies of cell lines or animal models have been reported, the mechanism of CMT2A pathology have not been yet clarified. Furthermore, there is no therapeutic drugs for CMT.
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