Mitochondrial genome mutations in 13 subunits of respiratory chain complexes in Chinese Han and Mongolian hypertensive individuals

Abstract

Mitochondrial DNA (mtDNA) mutations are associated with cardiovascular disease, including hypertension (HTN). Here we performed a genetic and molecular analysis of 13 mtDNA-encoded subunits of respiratory chain complexes in 100 Chinese Han and 80 Mongolian HTN cases, and 100 Han and 42 Mongolian normotension subjects. The total cholesterol of the Mongolian normotensive subjects was higher than that of the Han normotensive group (p < .05). Sequence analysis identified 636 point mutations in the 13 mtDNA-encoded subunits in the Han and Mongolian hypertensive individuals, including 66 in NADH dehydrogenase subunit 1(ND1), 62 in ND2, 71 in COI, 29 in COII, 17 in ATP8, one in ATP6/8, 49 in ATP6, 27 in COIII, 27 in ND3, 14 in ND4L, 74 in ND4, 97 in ND5, 24 in ND6, and 78 in CYTB. Eight of these point mutations were present at significantly different frequencies in Han and Mongolian hypertensive individuals. Thirty-one point mutations were present only in Mongolian hypertensive individuals, while 73 were present only in Han hypertensive individuals. The relation between point mutations in 13 mtDNA-encoded subunits of respiratory chain complexes and HTN is worth to further research in future; however, the functional effects of these mutations require elucidation.

Keywords:

• Han
• hypertension
• mitochondrial DNA
• Mongolian

Acknowledgements

We thank all the families who participated in this Study.

Disclosure statement

The authors declare that they have no competing interests.

Availability of data and materials

All data reported in this study is available from Drs Zhao Ying, and Chen Xi. Also data are available from the Discipline of Chinese PLA general Hospital, China.

Ethical approval and consent to participate

All the participants gave written informed consent or assent. Institutional Review Boards of Chinese PLA General Hospital approved the protocol for Human Subject Research.

Additional information

Funding

This work was supported by Chinese National Natural Science Foundation of Y. Liu [grant number 81470542 and 81100186].