MtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population

Biochemical and Biophysical Research Communications

Volumn 403, Issue 2, 2010, Pages 237-241

  Jia, Xiaoyun ^a   Li, Shiqiang ^a   Wang, Panfeng ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Chinese; LHON; M.3635G>A; MtDNA; Mutation

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; DISEASE COURSE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE;

EID: 78649906483     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.11.017     Document Type: Article

References (18)

1. Yu-Wai-Man P., Griffiths P.G., Hudson G., Chinnery P.F. Inherited mitochondrial optic neuropathies. J. Med. Genet. 2009, 46:145-158.
2. Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J., Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
3. Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort R., Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., Chinnery P.F. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am. J. Hum. Genet. 2007, 81:228-233.
4. Brown M.D., Zhadanov S., Allen J.C., Hosseini S., Newman N.J., Atamonov V.V., Mikhailovskaya I.E., Sukernik R.I., Wallace D.C. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum. Genet. 2001, 109:33-39.
5. 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.
6. Zhang A.M., Zou Y., Guo X., Jia X., Zhang Q., Yao Y.G. Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. Biochem. Biophys. Res. Commun. 2009, 386:392-395.
7. Ji Y., Jia X., Zhang Q., Yao Y.G. mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation. Biochem. Biophys. Res. Commun. 2007, 364:238-242.
8. 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.
9. Zhang A.M., Jia X., Yao Y.G., Zhang Q. Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 2008, 376:221-224.
10. 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.11778G>A mutation. Am. J. Hum. Genet. 2008, 83:760-768.
11. 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.3460G>A and Leber hereditary optic neuropathy. Neurogenetics 2010, 11:349-356.
12. Ji Y., Jia X., Li S., Xiao X., Guo X., Zhang Q. Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. Mol. Vis. 2010, 16:416-424.
13. 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.
14. 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.11778G>A. Hum. Genet. 2010, 128:465-468.
15. 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.
16. Man P.Y., Griffiths P.G., Brown D.T., Howell N., Turnbull D.M., Chinnery P.F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. 2003, 72:333-339.
17. Wang Q., Wang P., Li S., Xiao X., Jia X., Guo X., Kong Q.P., Yao Y.G., Zhang Q. Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia. Mol. Vis. 2010, 16:303-309.
18. Mitchell A.L., Elson J.L., Howell N., Taylor R.W., Turnbull D.M. Sequence variation in mitochondrial complex I genes: mutation or polymorphism?. J. Med. Genet. 2006, 43:175-179.