Mitochondrial DNA heteroplasmy in cardiac tissue from individuals with and without coronary artery disease.

The cellular environment associated with coronary artery disease (CAD) can lead to mitochondrial DNA (mtDNA) damage. Mitochondrial variants in some copies of mtDNA (heteropiasmy) and mtDNA content are potential genetic biomarkers for CAD-associated disease states. Massively parallel sequencing and qRT-PCR techniques were used to measure heteropiasmic variants and mtDNA content in heart samples from donors with (n = 8) and without (n = 7) documented CAD. Both groups showed increased numbers of heteropiasmic mtDNA variants in the control region (CR) (p <.0010, ANOVA). The donors with CAD displayed a 41.07% increase in heteropiasmic mtDNA variant number in the CR (p=.043), an 87.50% increase in the number of heteropiasmic mtDNA deletions (p = .12), and a 48.76% increase in the number of heteropiasmic mtDNA single nucleotide variants (p = .029). These data suggest potential trends towards higher cardiac mtDNA heteropiasmy levels in heart samples from donors with CAD.