Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow 125315, Russia.
Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow 121552, Russia.
Dis Markers. 2018 Feb 18;2018:9749457. doi: 10.1155/2018/9749457. eCollection 2018.
Myocardial infarction is one of the clinical manifestations of coronary heart disease. In some cases, the cause of myocardial infarction may be atherosclerotic plaques which occurred in the human aorta. The association of mtDNA mutations with atherosclerotic lesions in human arteries was previously detected by our research group. In this study, we used samples of white blood cells collected from 225 patients with myocardial infarction and 239 control persons with no health complaints. DNA was isolated from the blood leukocyte samples. Then, PCR fragments of DNA were obtained. They contained the investigated regions of 11 mitochondrial genome mutations (m.5178C>A, m.3336T>C, m.652delG, m.12315G>A, m.14459G>A, m.652insG, m.14846G>A, m.13513G>A, m.1555A>G, m.15059G>A, m.3256C>T). According to the obtained results, three mutations of the human mitochondrial genome correlated with myocardial infarction. A positive correlation was observed for mutation m.5178C>A. At the same time, a highly significant negative correlation with myocardial infarction was observed for mutation m.14846G>A. One single-nucleotide substitution of m.12315G>A had a trend towards negative correlation. These mutations can potentially be useful for creating molecular/cellular models for studying the mechanisms of myocardial infarction and designing novel therapies. Moreover, these mutations can possibly be used for diagnostic purposes.
心肌梗死是冠心病的临床表现之一。在某些情况下，心肌梗死的原因可能是发生在人体主动脉的动脉粥样硬化斑块。我们的研究小组以前曾发现 mtDNA 突变与人体动脉粥样硬化病变之间存在关联。在这项研究中，我们使用了 225 名心肌梗死患者和 239 名无健康问题的对照者的白细胞样本。从血液白细胞样本中分离出 DNA。然后，获得了包含研究区域的 11 个线粒体基因组突变的 PCR 片段（m.5178C>A、m.3336T>C、m.652delG、m.12315G>A、m.14459G>A、m.652insG、m.14846G>A、m.13513G>A、m.1555A>G、m.15059G>A、m.3256C>T）。根据获得的结果，人类线粒体基因组的三个突变与心肌梗死相关。m.5178C>A 突变呈阳性相关。同时，m.14846G>A 突变与心肌梗死呈高度显著负相关。m.12315G>A 的单个核苷酸取代呈负相关趋势。这些突变可能有助于创建用于研究心肌梗死机制和设计新型疗法的分子/细胞模型。此外，这些突变可能可用于诊断目的。
