Hefti Erik, Blanco Javier Guillermo
a Department of Pharmaceutical Sciences, The School of Pharmacy and Pharmaceutical Sciences , The State University of New York at Buffalo , Buffalo , NY , USA.
Mitochondrial DNA A DNA Mapp Seq Anal. 2018 May;29(4):587-593. doi: 10.1080/24701394.2017.1325480. Epub 2017 May 19.
The cellular environment associated with coronary artery disease (CAD) can lead to mitochondrial DNA (mtDNA) damage. Mitochondrial variants in some copies of mtDNA (heteroplasmy) and mtDNA content are potential genetic biomarkers for CAD-associated disease states. Massively parallel sequencing and qRT-PCR techniques were used to measure heteroplasmic variants and mtDNA content in heart samples from donors with (n = 8) and without (n = 7) documented CAD. Both groups showed increased numbers of heteroplasmic mtDNA variants in the control region (CR) (p < .0010, ANOVA). The donors with CAD displayed a 41.07% increase in heteroplasmic mtDNA variant number in the CR (p = .043), an 87.50% increase in the number of heteroplasmic mtDNA deletions (p = .12), and a 48.76% increase in the number of heteroplasmic mtDNA single nucleotide variants (p = .029). These data suggest potential trends towards higher cardiac mtDNA heteroplasmy levels in heart samples from donors with CAD.
与冠状动脉疾病（CAD）相关的细胞环境可导致线粒体DNA（mtDNA）损伤。mtDNA某些拷贝中的线粒体变异（异质性）和mtDNA含量是CAD相关疾病状态的潜在遗传生物标志物。采用大规模平行测序和qRT-PCR技术测量有（n = 8）和无（n = 7）CAD记录的供体心脏样本中的异质变异和mtDNA含量。两组在控制区（CR）的异质mtDNA变异数量均增加（p <.0010，方差分析）。CAD供体的CR中异质mtDNA变异数量增加41.07%（p = 0.043），异质mtDNA缺失数量增加87.50%（p = 0.12），异质mtDNA单核苷酸变异数量增加48.76%（p = 0.029）。这些数据表明，CAD供体心脏样本中心脏mtDNA异质性水平有升高的潜在趋势。
