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Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease

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Abstract

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.

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Acknowledgments

We thank all the patients for providing blood samples for scientific research, also, the Especial Afshar Hospital (Yazd, Iran).

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Authors and Affiliations

  1. Department of Biology, Faculty of Science, Yazd University, Yazd, Iran

    Mohammad Mehdi Heidari, Fatemeh Sadat Mirfakhradini, Fahime Tayefi, Saghar Ghorbani & Mehri Khatami

  2. Department of Cardiovascular Surgery, Afshar Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Mehdi Hadadzadeh

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  1. Mohammad Mehdi Heidari
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  2. Fatemeh Sadat Mirfakhradini
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Correspondence to Mohammad Mehdi Heidari.

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Heidari, M.M., Mirfakhradini, F.S., Tayefi, F. et al. Novel Point Mutations in Mitochondrial MT-CO2 Gene May Be Risk Factors for Coronary Artery Disease. Appl Biochem Biotechnol 191, 1326–1339 (2020). https://doi.org/10.1007/s12010-020-03275-0

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