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Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.

Cell metabolism - 8 Jan 2019

McManus Meagan J, Picard Martin, Chen Hsiao-Wen, De Haas Hans J, Potluri Prasanth, Leipzig Jeremy, Towheed Atif, Angelin Alessia, Sengupta Partho, Morrow Ryan M, Kauffman Brett A, Vermulst Marc, Narula Jagat, Wallace Douglas C

Abstract excerpt

Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies from slowly progressive to fulminant. This variability correlates with the mitochondrial DNA (mtDNA) lineage. To confirm that mtDNA variants can modulate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30174309
DOI: 10.1016/j.cmet.2018.08.002
PMCID: PMC6717513

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