Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T > C

KIZ OpenIR > 科研部门 > 疾病机理遗传学和进化医学学科组（姚永刚）

	Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T > C
	Yu DD 1; Jia XY 2; Zhang AM 1,3; Li SQ 2; Zou Y 1,3; Zhang QJ2; Yao YG1; qingjiongzhang@yahoo.com ; ygyaozh@gmail.com
	2010
发表期刊	PLOS ONE
卷号	5 期号:10 页码:e13426
合作性质	其它
摘要	Background: Leber hereditary optic neuropathy (LHON, MIM 535000) is one of the most common mitochondrial genetic disorders caused by three primary mtDNA mutations (m. 3460G>A, m. 11778G>A and m. 14484T>C). The clinical expression of LHON is affected by many additional factors, e. g. mtDNA background, nuclear genes, and environmental factors. Hitherto, there is no comprehensive study of Chinese LHON patients with m. 14484T>C. Methodology/Principal Findings: In this study, we analyzed the mtDNA sequence variations and haplogroup distribution pattern of the largest number of Chinese LHON patients with m. 14484T>C to date. We first determined the complete mtDNA sequences in eleven LHON probands with m. 14484T>C, to discern the potentially pathogenic mutations that co-segregate with m. 14484T>C. We then dissected the matrilineal structure of 52 patients with m. 14484T>C (including 14 from unrelated families and 38 sporadic cases) and compared it with the reported Han Chinese from general populations. Complete mtDNA sequencing showed that the eleven matrilines belonged to nine haplogroups including Y2, C4a, M8a, M10a1a, G1a1, G2a1, G2b2, D5a2a1, and D5c. We did not identify putatively pathogenic mutation that was co-segregated with m. 14484T>C in these lineages based on the evolutionary analysis. Compared with the reported Han Chinese from general populations, the LHON patients with m. 14484T>C had significantly higher frequency of haplogroups C, G, M10, and Y, but a lower frequency of haplogroup F. Intriguingly, we also observed a lower prevalence of F lineages in LHON subjects with m. 11778G>A in our previous study, suggesting that this haplogroup may enact similar role during the onset of LHON in the presence of m. 14484T>C or m. 11778G>A. Conclusions/Significance: Our current study provided a comprehensive profile regarding the mtDNA variation and background of Chinese patients with LHON and m. 14484T>C. Matrilineal background might affect the expression of LHON in Chinese patients with m. 14484T>C.
资助者	This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021).
收录类别	SCI
语种	英语
资助者	This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021). ; This study was supported by Yunnan Province (2009CI119), Guangdong Province (2009B091300150), Chinese Academy of Sciences, and the National Natural Science Foundation of China (30925021).
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/6370
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室
通讯作者	qingjiongzhang@yahoo.com; ygyaozh@gmail.com
作者单位	1.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 2.State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China 3.Graduate School of the Chinese Academy of Sciences, Beijing, China
推荐引用方式 GB/T 7714	Yu DD,Jia XY,Zhang AM,et al. Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T > C[J]. PLOS ONE,2010,5(10):e13426.
APA	Yu DD.,Jia XY.,Zhang AM.,Li SQ.,Zou Y.,...&ygyaozh@gmail.com.(2010).Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T > C.PLOS ONE,5(10),e13426.
MLA	Yu DD,et al."Mitochondrial DNA Sequence Variation and Haplogroup Distribution in Chinese Patients with LHON and m.14484T > C".PLOS ONE 5.10(2010):e13426.

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