Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes

BMC Medical Genetics

Yundai Chen²  Minxin Guan¹  Zongbin Li²  Jie Yang²  Yunfeng Lan²  Chao Zhu²  Jinliao Gao²  Yang Li²  Yuqi Liu² 

[1] Department of Genetics, College of Life Sciences, Zhejiang University, Zhejiang, China;The Institute of Geriatric Cardiology, Cardiac Department, Chinese PLA General Hospital, Beijing, China

关键词: tRNA;    Mutation;    Hypertension;    Mitochondria;   

Others  :  1091155
DOI  :  10.1186/1471-2350-15-84

 received in 2013-06-22, accepted in 2014-06-13,  发布年份 2014

【 摘 要 】

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 tRNA^Ile and tRNA^Gln 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 tRNA^Ile and tRNA^Gln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.

【 授权许可】

   
2014 Liu et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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