Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T.C. PLoS One 5(10): e13426 (2010)
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BibTeX
@MISC{Yu10mitochondrialdna,
author = {An Yu and Xiaoyun Jia and A-mei Zhang and Shiqiang Li and Yang Zou and Qingjiong Zhang},
title = {Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T.C. PLoS One 5(10): e13426},
year = {2010}
}
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Abstract
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 cosegregate 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
Keyphrases
haplogroup distribution mitochondrial dna sequence variation chinese patient han chinese general population chinese lhon patient pathogenic mutation nuclear gene comprehensive study methodology principal finding sporadic case mtdna sequence variation mtdna background lhon patient complete mtdna sequence common mitochondrial genetic disorder many additional factor leber hereditary optic neuropathy primary mtdna mutation complete mtdna sequencing matrilineal structure eleven lhon clinical expression eleven matrilines unrelated family lhon subject evolutionary analysis environmental factor haplogroup distribution pattern
