Article

Metabolic rescue ameliorates mitochondrial encephalo-cardiomyopathy in murine and human iPSC models of Leigh syndrome

2022-01-05

Abstract excerpt

<h4>ABSTRACT</h4> Mice with deletion of complex I subunit Ndufs4 develop mitochondrial encephalomyopathy resembling Leigh syndrome (LS). We report that LS mice also develop severe cardiac bradyarrhythmia and diastolic dysfunction. Human induced pluripotent stem cell-derived cardiomyocytes (iPS-CMs) with Ndufs4 deletion recapitulate LS cardiomyopathy. Mechanistically, we demonstrate a direct link between complex I...

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Literature Corpus work: 321c30e2-c9d5-56f9-8052-0199efa6a8bc
DOI: 10.1101/2022.01.04.475008

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