title: Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes.
abstract: BACKGROUND
  Hypertension is a very common cardiovascular disease influenced by multiple genetic and environmental factors. More recently, there are some studies showed that mutations in mitochondrial DNA have been involved in its pathogenesis. In this study we did further investigations on this relationship.
  
  
  METHODS
  Epidemiological research found a Han Chinese family with probable maternally transmitted hypertension. Sequence analysis of the whole mitochondrial DNA was detected from all the family members. And evaluations of the clinical, genetic and molecular characterization were also performed.
  
  
  RESULTS
  Matrilineal relatives within the family exhibited varying degrees of hypertension with an onset age of 48-55 years. Sequence analysis of this pedigree showed a novel homoplasmic 4329C > G mutation located at the 3' end of the tRNAIle and tRNAGln genes that was absent from 366 Chinese controls. The cytosine (C) at 4329 position was very important in the structural formation and stabilization of functional tRNAs, which was highly conserved in mitochondria of various organisms and also contributed to the high fidelity of the acceptor arm. Cells carrying this mutation were also shown to harbor mitochondrial dysfunctions.
  
  
  CONCLUSIONS
  The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.
authors: Yuqi
authors: Y
authors: Liu
authors: Yang
authors: Y
authors: Li
authors: Jinliao
authors: J
authors: Gao
authors: Chao
authors: C
authors: Zhu
authors: Yunfeng
authors: Y
authors: Lan
authors: Jie
authors: J
authors: Yang
authors: Zongbin
authors: Z
authors: Li
authors: The Institute of Geriatric Cardiology, Cardiac Department, Chinese PLA General Hospital, Beijing, China. gminxin88@gmail.com.
authors: Minxin
authors: M
authors: Guan
authors: Yundai
authors: Y
authors: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003596:Cytosine / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006147:Guanine / Q000378:metabolism*; D006801:Humans; D006973:Hypertension / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D012351:RNA, Transfer, Gln / Q000235:genetics* / Q000378:metabolism; D012355:RNA, Transfer, Ile / Q000235:genetics* / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D012351:RNA, Transfer, Gln; D012355:RNA, Transfer, Ile; D006147:Guanine; D003596:Cytosine