Article
A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-Tooth disease type 2A rat model.
The Journal of clinical investigation - 1 Dec 2022
Sato-Yamada Yurie, Strickland Amy, Sasaki Yo, Bloom Joseph, DiAntonio Aaron, Milbrandt Jeffrey
Abstract excerpt
Charcot-Marie-Tooth disease type 2A (CMT2A) is an axonal neuropathy caused by mutations in the mitofusin 2 (MFN2) gene. MFN2 mutations result in profound mitochondrial abnormalities, but the mechanism underlying the axonal pathology is unknown. Sterile α and Toll/IL-1 receptor motif-containing 1 (SARM1), the central executioner of axon degeneration, can induce neuropathy and is activated by dysfunctional...
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