Article
Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.
Human molecular genetics - 1 Feb 2014
Dai Ying, Zheng Kangni, Clark Joanne, Swerdlow Russell H, Pulst Stefan M, Sutton James P, Shinobu Leslie A, Simon David K
Abstract excerpt
Mitochondrial DNA (mtDNA) mutations cause a variety of mitochondrial disorders for which effective treatments are lacking. Emerging data indicate that selective mitochondrial degradation through autophagy (mitophagy) plays a critical role in mitochondrial quality control. Inhibition of mammalian target of rapamycin (mTOR) kinase activity can activate mitophagy. To test the hypothesis that enhancing mitophagy...
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