Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Journal of Translational Medicine

Volumn 10, Issue 1, 2012, Pages

  Zhang, A Mei ^a   Jia, Xiaoyun ^b   Guo, Xiangming ^b   Zhang, Qingjiong ^b   Yao, Yong Gang ^a  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

Author keywords

Chinese; LHON; M.10680g > A; MtDNA; Rare primary mutation

Indexed keywords

ALANINE; GLYCINE; MITOCHONDRIAL DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL GENOME; MT ND1 GENE; MT ND4L GENE; MT ND5 GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; ASIAN; CALIBRATION; ETHNOLOGY; FAMILY; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MITOCHONDRIAL GENE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARD;

ASIAN CONTINENTAL ANCESTRY GROUP; CALIBRATION; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY; GENES, MITOCHONDRIAL; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME, MITOCHONDRIAL; HUMANS; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862790248     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-10-43     Document Type: Article

References (33)

1. Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002, 39:162-169. 10.1136/jmg.39.3.162, 1735056, 11897814.
2. Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet 2009, 46:145-158. 2643051, 19001017.
3. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004, 23:53-89. 10.1016/j.preteyeres.2003.10.003, 14766317.
4. Brown MD, Zhadanov S, Allen JC, Hosseini S, Newman NJ, Atamonov VV, Mikhailovskaya IE, Sukernik RI, Wallace DC. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum Genet 2001, 109:33-39. 10.1007/s004390100538, 11479733.
5. Zhang A-M, Zou Y, Guo X, Jia X, Zhang Q, Yao Y-G. Mitochondrial DNA mutation m.3635 G > A may be associated with Leber hereditary optic neuropathy in Chinese. Biochem Biophys Res Commun 2009, 386:392-395. 10.1016/j.bbrc.2009.06.051, 19527690.
6. Yang J, Zhu Y, Tong Y, Chen L, Liu L, Zhang Z, Wang X, Huang D, Qiu W, Zhuang S, Ma X. Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. Biochem Biophys Res Commun 2009, 386:50-54. 10.1016/j.bbrc.2009.05.127, 19497304.
7. Jia X, Li S, Wang P, Guo X, Zhang Q. mtDNA m.3635 G > A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population. Biochem Biophys Res Commun 2010, 403:237-241. 10.1016/j.bbrc.2010.11.017, 21074518.
8. Ji Y, Zhang A-M, Jia X, Zhang Y-P, Xiao X, Li S, Guo X, Bandelt H-J, Zhang Q, Yao Y-G. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778 G > A mutation. Am J Hum Genet 2008, 83:760-768. 10.1016/j.ajhg.2008.11.002, 2668067, 19026397.
9. Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007, 81:228-233. 10.1086/519394, 1950812, 17668373.
10. Phasukkijwatana N, Kunhapan B, Stankovich J, Chuenkongkaew WL, Thomson R, Thornton T, Bahlo M, Mushiroda T, Nakamura Y, Mahasirimongkol S, et al. Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand. Hum Genet 2010, 128:39-49. 10.1007/s00439-010-0821-8, 20407791.
11. Abu-Amero KK, Jaber M, Hellani A, Bosley TM. Genome-wide expression profile of LHON patients with the 11778 mutation. Br J Ophthalmol 2010, 94:256-259. 10.1136/bjo.2009.165571, 19726426.
12. Zhang A-M, Jia X, Zhang Q, Yao Y-G. No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778 G > A. Hum Genet 2010, 128:465-468. 10.1007/s00439-010-0875-7, 20711738.
13. Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 2009, 132:2317-2326. 10.1093/brain/awp158, 2732267, 19525327.
14. Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 2009, 30:E692-705. 10.1002/humu.21025, 19319978.
15. Zou Y, Jia X, Zhang A-M, Wang W-Z, Li S, Guo X, Kong Q-P, Zhang Q, Yao Y-G. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations. Biochem Biophys Res Commun 2010, 399:179-185. 10.1016/j.bbrc.2010.07.051, 20643099.
16. Yang J, Zhu Y, Tong Y, Zhang Z, Chen L, Chen S, Cao Z, Liu C, Xu J, Ma X. The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family. Mitochondrion 2009, 9:273-278. 10.1016/j.mito.2009.04.003, 19394449.
17. Zhang A-M, Jia X, Bi R, Salas A, Li S, Xiao X, Wang P, Guo X, Kong Q-P, Zhang Q, Yao Y-G. Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients. PLoS One 2011, 6:e27750. 10.1371/journal.pone.0027750, 3216987, 22110754.
18. Bi R, Zhang A-M, Yu D, Chen D, Yao Y-G. Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR. Clin Chim Acta 2010, 411:1671-1674. 10.1016/j.cca.2010.06.026, 20599858.
19. Wang H-W, Jia X, Ji Y, Kong Q-P, Zhang Q, Yao Y-G, Zhang Y-P. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A. Mutat Res 2008, 643:48-53. 10.1016/j.mrfmmm.2008.06.004, 18619472.
20. Kong Q-P, Sun C, Wang H-W, Zhao M, Wang W-Z, Zhong L, Hao X-D, Pan H, Wang S-Y, Cheng Y-T, et al. Large-scale mtDNA screening reveals a surprising matrilineal complexity in East Asia and its implications to the peopling of the region. Mol Biol Evol 2011, 28:513-522. 10.1093/molbev/msq219, 20713468.
21. van Oven M, Kayser M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 2009, 30:E386-394. 10.1002/humu.20921, 18853457.
22. Kong Q-P, Bandelt H-J, Sun C, Yao Y-G, Salas A, Achilli A, Wang C-Y, Zhong L, Zhu C-L, Wu S-F, et al. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 2006, 15:2076-2086. 10.1093/hmg/ddl130, 16714301.
23. Bandelt H-J, Salas A, Taylor RW, Yao Y-G. Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Hum Mutat 2009, 30:191-196. 10.1002/humu.20846, 18800376.
24. Fan L, Yao Y-G. MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations. Mitochondrion 2011, 11:351-356. 10.1016/j.mito.2010.09.013, 20933105.
25. Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH. Leber's hereditary optic neuropathy-the spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol 2002, 46:45-51. 10.1016/S0021-5155(01)00460-9, 11853713.
26. Crispim D, Estivalet AA, Roisenberg I, Gross JL, Canani LH. Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arq Bras Endocrinol Metabol 2008, 52:1228-1235. 10.1590/S0004-27302008000800005, 19169474.
27. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999, 23:147. 10.1038/13779, 10508508.
28. Jia X, Li S, Xiao X, Guo X, Zhang Q. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. J Hum Genet 2006, 51:851-856. 10.1007/s10038-006-0032-2, 16972023.
29. Yu D, Jia X, Zhang A-M, Guo X, Zhang Y-P, Zhang Q, Yao Y-G. Molecular characterization of six Chinese families with m.3460 G > A and Leber hereditary optic neuropathy. Neurogenetics 2010, 11:349-356. 10.1007/s10048-010-0236-7, 20232220.
30. Yu D, Jia X, Zhang A-M, Li S, Zou Y, Zhang Q, Yao Y-G. Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484 T > C. PLoS One 2010, 5:e13426. 10.1371/journal.pone.0013426, 2956641, 20976138.
31. Kervinen M, Patsi J, Finel M, Hassinen IE. A pair of membrane-embedded acidic residues in the NuoK subunit of Escherichia coli NDH-1, a counterpart of the ND4L subunit of the mitochondrial complex I, are required for high ubiquinone reductase activity. Biochemistry 2004, 43:773-781. 10.1021/bi0355903, 14730982.
32. Efremov RG, Sazanov LA. Structure of the membrane domain of respiratory complex I. Nature 2011, 476:414-420. 10.1038/nature10330, 21822288.
33. Efremov RG, Sazanov LA. Respiratory complex I: 'steam engine' of the cell?. Curr Opin Struct Biol 2011, 21:532-540. 10.1016/j.sbi.2011.07.002, 21831629.