Kirichenko Tatiana V, Sobenin Igor A, Khasanova Zukhra B, Orekhova Varvara A, Melnichenko Alexandra A, Demakova Natalya A, Grechko Andrey V, Orekhov Alexander N, Ble Castillo Jorge L, Shkurat Tatiana P
National Research Medical Center of Cardiology, Moscow, Russia.
Southern Federal University, Rostov-on-Don, Russia.
Data Brief. 2018 Mar 12;18:16-21. doi: 10.1016/j.dib.2018.02.068. eCollection 2018 Jun.
Despite the fact that the role of mitochondrial genome mutations in a number of human diseases is widely studied, the effect of mitochondrial heteroplasmy in the development of cardiovascular disease has not been adequately investigated. In this study, we compared the heteroplasmy levels of mtDNA from leukocytes for m.3256C>T, m.3336T>C, m.12315G>A, m.5178C>A, m.13513G>A, m.14459G>A, m.14846G>A, m.15059G>A, m.652insG and m.1555A>G mutations in CVD-free subjects and CVD patients in samples derived from Russian and Mexican populations. It was demonstrated that heteroplasmy level of m.5178C>A was associated with CVD in Russian men, and m.14459G>A - in Russian women. Mitochondrial heteroplasmy level of m.13513G>A and m.652insG were associated with CVD in Mexican men, and only m.652insG- in Mexican women. The levels of heteroplasmy for mitochondrial mutations m.3336T>C, m.5178C>A, m.14459G>A, m.14846G>A and m.1555A>G were significantly higher in CVD-free Mexican men, and for m.3256C>T, m.3336T>C, and m.14459G>A - in CVD-free Mexican women.
尽管线粒体基因组突变在多种人类疾病中的作用已得到广泛研究，但线粒体异质性在心血管疾病发生发展中的影响尚未得到充分研究。在本研究中，我们比较了来自俄罗斯和墨西哥人群样本中无心血管疾病（CVD）受试者和CVD患者白细胞中mtDNA的m.3256C>T、m.3336T>C、m.12315G>A、m.5178C>A、m.13513G>A、m.14459G>A、m.14846G>A、m.15059G>A、m.652insG和m.1555A>G突变的异质性水平。结果表明，m.5178C>A的异质性水平与俄罗斯男性的CVD相关，m.14459G>A与俄罗斯女性的CVD相关。m.13513G>A和m.652insG的线粒体异质性水平与墨西哥男性的CVD相关，而仅m.652insG与墨西哥女性的CVD相关。线粒体突变m.3336T>C、m.5178C>A、m.14459G>A、m.14846G>A和m.1555A>G的异质性水平在无CVD的墨西哥男性中显著更高，m.3256C>T、m.3336T>C和m.14459G>A在无CVD的墨西哥女性中显著更高。
