Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrpcausing maternally inherited essential hypertension.
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.
Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China; Department of Radiology, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650101, China.
Li
L
Guo
Department of Emergency, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650101, China.
Yong
Y
Yuan
Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China. Electronic address: birui@mail.kiz.ac.cn.
Rui
R
Bi
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D000075222:Essential Hypertension; D005080:Exercise Test; D005260:Female; D054629:Genome, Mitochondrial; D006579:Heterozygote; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D000072741:Maternal Inheritance; D008875:Middle Aged; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D012364:RNA, Transfer, Trp / Q000737:chemistry / Q000235:genetics*; D059289:Vascular Stiffness / Q000235:genetics; D020257:Ventricular Remodeling / Q000235:genetics
D004272:DNA, Mitochondrial; D012364:RNA, Transfer, Trp
Chinese; Dai population; Essential hypertension; m.5512A > G; mtDNA; tRNA(Trp)