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Idiopathic dilated cardiomyopathy is a recognised manifestation of mitochondrial disease due to specific mitochondrial (mt) DNA mutations. However, whether mtDNA polymorphisms predispose to sporadic dilated cardiomyopathy is not known. We analysed two populations with this disorder for a general mtDNA variant (T16189C), previously implicated in susceptibility to type 2 diabetes. We noted an increased frequency of the polymorphism in both populations compared with controls (p=0.002). The polymorphism occurred on different mtDNA backgrounds, suggesting that it might be a functional variant. This association of an mtDNA variant with increased susceptibility to dilated cardiomyopathy provides evidence for a mitochondrial cause in sporadic disease.

Original publication




Journal article



Publication Date





1265 - 1267


Adolescent, Adult, African Continental Ancestry Group, Aged, Cardiomyopathy, Dilated, DNA, Mitochondrial, Europe, European Continental Ancestry Group, Genetic Variation, Genetics, Population, Humans, Middle Aged, Polymorphism, Genetic, South Africa