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Clinical Epigenetics

, 7:44

First Online: 16 April 2015Received: 02 March 2015Accepted: 01 April 2015


BackgroundPlatelets are critical in the etiology of cardiovascular disease CVD, and the mitochondria in these cells serve as an energy source for platelet function. Epigenetic factors, especially DNA methylation, have been employed as markers of CVD. Unlike nuclear DNA methylation, mitochondrial DNA mtDNA methylation has not been widely studied, in part, due to debate about its existence and role. In this study, we examined platelet mtDNA methylation in relation to CVD.

ResultsWe measured mtDNA methylation in platelets by bisulfite-PCR pyrosequencing and examined associations of CVD with methylation in mitochondrial genes; cytochrome c oxidase MT-CO1, MT-CO2, and MT-CO3; tRNA leucine 1 MT-TL1; ATP synthase MT-ATP6 and MT-ATP8; and NADH dehydrogenase MT-MD5. We report that CVD patients have significantly higher mtDNA methylation than healthy controls in MT-CO1 18.53%, P < 0.0001, MT-CO2 3.33%, P = 0.0001, MT-CO3 0.92%, P < 0.0001, and MT-TL1 1.67%, P = 0.0001, which are involved in ATP synthesis. Platelet mtDNA methylation was not related with age, BMI, and race in this study.

ConclusionsOur results suggest that platelet mtDNA methylation, which could serve as non-invasive and easy-to-obtain markers, may be implicated in the etiology of CVD.

KeywordsMitochondrial epigenetics DNA methylation Platelet Cardiovascular disease Electronic supplementary materialThe online version of this article doi:10.1186-s13148-015-0078-0 contains supplementary material, which is available to authorized users.

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Autor: Andrea A Baccarelli - Hyang-Min Byun


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