Molecular characterization of a Han Chinese family with essential hypertension.
Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family.
Cardiology Department, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
J F
JF
Zhu
Cardiology Department, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
X
X
Zhang
Cardiology Department, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
L
L
Ling
D044466:Asian People / Q000235:genetics; D002681:China; D004272:DNA, Mitochondrial / Q000235:genetics*; D000075222:Essential Hypertension; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D054629:Genome, Mitochondrial; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D011110:Polymorphism, Genetic
D004272:DNA, Mitochondrial