Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension.

Li Guo, Yong Yuan, Rui Bi

Biochemical and biophysical research communications 2016 Oct 28

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Essential hypertension (EH) is a common complex disorder with high heritability. Maternal inherited pattern was observed in some families with EH, which was known as maternally inherited essential hypertension (MIEH). Mitochondrial DNA (mtDNA) mutations were identified to account for some MIEH in previous studies. In the present study, we characterized clinical manifestations and the complete mitochondrial genome of a Chinese family with MIEH. Through analyzing the whole mtDNA genome of the proband, we identified a mutation m.5512A > G in the MT-TW gene that changed a highly conserved nucleotide and could potentially affect the function of tRNATrp. Furthermore, significantly exercise intolerance, left ventricular remodeling and increased arterial stiffness were observed in carriers with mutation m.5512A > G, which further supported the potentially pathogenic effect of m.5512A > G in MIEH. Copyright © 2016 Elsevier Inc. All rights reserved.

Citation

Li Guo, Yong Yuan, Rui Bi. Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension. Biochemical and biophysical research communications. 2016 Oct 28;479(4):800-807