Mitochondrial DNA mutations activate the mitochondrial apoptotic pathway and cause dilated cardiomyopathy

Abstract excerpt

OBJECTIVE: To determine whether low frequency mitochondrial DNA (mtDNA) mutations are pathogenic. METHODS: We studied mice that express a proofreading-deficient mitochondrial DNA polymerase in the heart and develop cardiac mtDNA mutations. RESULTS: At 4 weeks of age, when point mutation levels had risen to on average two per mitochondrial genome, these mice developed severe dilated cardiomyopathy. Interstitial...

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