Open Access Research article

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

Yuqi Liu1, Yang Li1, Jinliao Gao1, Chao Zhu1, Yunfeng Lan1, Jie Yang1, Zongbin Li1, Minxin Guan234* and Yundai Chen1*

Author Affiliations

1 The Institute of Geriatric Cardiology, Cardiac Department, Chinese PLA General Hospital, Beijing, China

2 Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou, Zhejiang, China

3 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

4 Department of Genetics, College of Life Sciences, Zhejiang University, Zhejiang, China

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BMC Medical Genetics 2014, 15:84  doi:10.1186/1471-2350-15-84

Published: 23 July 2014



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.


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.


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.


The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.

Mitochondria; Hypertension; Mutation; tRNA