Article
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
eLife - 1 Nov 2023
Franco Antonietta, Li Jiajia, Kelly Daniel P, Hershberger Ray E, Marian Ali J, Lewis Renate M, Song Moshi, Dang Xiawei, Schmidt Alina D, Mathyer Mary E, Edwards John R, Strong Cristina de Guzman, Dorn Gerald W
Abstract excerpt
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of isolated cardiomyopathy. Here, we determined that the rare mitofusin (MFN) 2 R400Q mutation is 15-20× over-represented in clinical cardiomyopathy, whereas this specific mutation is not reported as a cause of MFN2 mutant-induced peripheral neuropathy, Charcot-Marie-Tooth disease type...
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