两个携带线粒体tRNAMet/tRNAGlnA4401G和tRNACysG5821A突变的中国汉族原发性高血压家系的临床及分子遗传学特征

doi:10.3724/SP.J.1005.2014.0127

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HEREDITAS ›› 2014, Vol. 36 ›› Issue (2): 127-134.doi: 10.3724/SP.J.1005.2014.0127

The mitochondrial tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations may be associated with hypertension in two Han Chinese families

Meifen Xu^1,2, Yiqun He^1,2, Junwei Geng^1,2, Yanzi Meng^1,2, Han Yu^1,2, Zhi Lin^1,2, Suxue Shi^1,2, Ling Xue^1,2, Zhongqiu Lu³, Minxin Guan^1,2,4

1. School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou 325035, China;
2. Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical University, Wenzhou 325035, China;
3. Emergercy Department, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China;
4. Institute of Genetics, Zhejiang University, Hangzhou 310023, China

Received:2013-09-16 Revised:2013-11-12 Online:2014-02-20 Published:2014-01-25

Abstract

Abstract:

Mitochondrial tRNA genes are the hot spots for mutations associated with essential hypertension. We report here the clinical and molecular genetic characterization of two Han Chinese pedigrees with materially inherited essential hypertension. Clinical evaluation revealed the variable severity and age-at-onset of hypertension among matrilineal relatives. In particular, the age-at-onset of hypertension in the maternal kindred ranged from 36 years to 79 years. The sequence analysis of entire mitochondrial genome in two probands showed that two probands carried the identical homoplasmic tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations and distinct sets of polymorphisms belonging to East Asian haplogroup C. The A4401G mutation may affect the processing of the precursors of tRNAMet and tRNAGln , thereby altering the tRNA metabolism. The tRNACys G5821A mutation is located in the acceptor stem of tRNACys. This mutation may abol-ish the predicted G6-C67 pairing and consequently affect the structure and stability of mitochondrial tRNACys, thereby leading to mitochondrial dysfunction. Therefore, these data suggested that the tRNAMet/tRNAGlnA4401G and tRNACys G5821A mutations are likely associated with essential hypertension in these two Chinese pedigrees.

Key words: essential hypertension, mitochondrial DNA, mutation, haplotype

Meifen Xu, Yiqun He, Junwei Geng, Yanzi Meng, Han Yu, Zhi Lin, Suxue Shi, Ling Xue, Zhongqiu Lu, Minxin Guan. The mitochondrial tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations may be associated with hypertension in two Han Chinese families[J]. HEREDITAS, 2014, 36(2): 127-134.

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The mitochondrial tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations may be associated with hypertension in two Han Chinese families

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