A wide range of genetic and environmental interactions are involved in the development of coronary artery disease (CAD). Considerable evidence suggests that mitochondrial DNA mutations are associated with heart failure. In this work, we examined the possible mutations in hotspot mitochondrial genes and their association with Iranian patients with coronary artery disease. In this case-control study, nucleotide variations were investigated in 109 patients with coronary atherosclerosis and 105 control subjects with no family history of cardiovascular disease. The molecular analysis of related mitochondrial genes was performed by polymerase chain reaction sequencing. Our results showed 25 nucleotide variations (10 missense mutations, 9 synonymous polymorphisms, and 6 variants in tRNA genes) that for the first time were presented in coronary artery disease. Our results suggest that novel heteroplasmic m.8231 C>A mutation is involved in CAD (p = 0.007). These nucleotide variations suggest the role of mitochondrial mutations as a predisposing factor which in combination with environmental risk factors may affect the pathogenesis of coronary atherosclerosis. So, further investigation is needed for a better understanding of the pathogenesis and predisposing effects of these variations on the disease.

冠状动脉疾病（CAD）的发展涉及广泛的遗传和环境相互作用。大量证据表明线粒体DNA突变与心力衰竭有关。在这项工作中，我们检查了热点线粒体基因中的可能突变及其与伊朗冠心病患者的关系。在该病例对照研究中，对109例冠状动脉粥样硬化患者和105例无心血管疾病家族史的对照对象的核苷酸变异进行了研究。通过聚合酶链反应测序对相关线粒体基因进行了分子分析。我们的结果显示25个核苷酸变异（10个错义突变，9个同义多态性，和tRNA基因的6个变异）首次出现在冠心病中。我们的结果表明，新型异质性m.8231 C> A突变参与了CAD（p  = 0.007）。这些核苷酸变异提示线粒体突变是诱发因素，与环境危险因素结合可能影响冠状动脉粥样硬化的发病机制。因此，需要进一步研究以更好地了解发病机理以及这些变异对疾病的易感性。