Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families

Biochemical and Biophysical Research Communications

Volumn 340, Issue 1, 2006, Pages 69-75

  Zhou, Xiangtian ^a   Wei, Qiping ^b   Yang, Li ^c   Tong, Yi ^a,d   Zhao, Fuxin ^a   Lu, Chunjie ^a   Qian, Yaping ^c   Sun, Yanghong ^b   Lu, Fan ^a   Qu, Jia ^a   Guan, Min Xin ^a,c,e  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d FUJIAN MEDICAL UNIVERSITY   (China)

^e UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Chinese; Leber's hereditary optic neuropathy; Mitochondrial DNA; ND4 G11696A mutation; Penetrance; Vision loss

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PROTEIN ND4; PROTEIN ND5; TRANSFER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENOME ANALYSIS; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRIAL GENETICS; ONSET AGE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INCIDENCE; MALE; NADH DEHYDROGENASE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE; POLYMORPHISM, GENETIC; RISK ASSESSMENT; RISK FACTORS;

EID: 29244483946     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.11.150     Document Type: Article

References (25)

1. N.J. Newman Leber's hereditary optic neuropathy Ophthalmol. Clin. N.A. 4 1993 431 447
2. M.D. Brown, A. Torroni, C.L. Reckord, and D.C. Wallace Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Hum. Mut. 6 1995 311 325
3. N. Howell Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve Vision Res. 37 1997 3495 3507
4. P.Y. Man, D.M. Turnbull, and P.F. Chinnery Leber hereditary optic neuropathy J. Med. Genet. 39 2002 162 169
5. D.C. Wallace, G. Singh, M.T. Lott, J.A. Hodge, T.G. Schurr, A.M. Lezza, L.J. Elsas, and E.K. Nikoskelainen Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
6. N. Howell LHON and other optic nerve atrophies: the mitochondrial connection Dev. Ophthalmol. 37 2003 94 108
7. S. Servidei Mitochondrial encephalomyopathies: gene mutation Neuromuscul. Disord. 14 2004 107 116
8. M.C. Brandon, M.T. Lott, K.C. Nguyen, S. Spolim, S.B. Navathe, P. Baldi, and D.C. Wallace MITOMAP:a human mitochondrial genome database-2004 update Nucleic Acids Res. 33 2005 D611 D613
9. D.A. Mackey, R.J. Oostra, T. Rosenberg, E. Nikoskelainen, J. Bronte-Stewart, J. Poulton, A.E. Harding, G. Govan, P.A. Bolhuis, S. Norby, E.M. Bleeker-Wagemakers, M.-L. Savontaus, C. Cahn, and N. Howell Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy Am. J. Hum. Genet. 59 1996 481 485
10. Y. Mashima, K. Yamada, M. Wakakura, K. Kigasawa, J. Kudoh, N. Shimizu, and Y. Oguchi Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy Curr. Eye Res. 17 1998 403 408
11. P.Y. Man, P.G. Griffiths, D.T. Brown, N. Howell, D.M. Turnbull, and P.F. Chinnery The epidemiology of Leber hereditary optic neuropathy in the North East of England Am. J. Hum. Genet. 72 2003 333 339
12. J. Qu, R. Li, Y. Tong, Y. Hu, X. Zhou, Y. Qian, F. Lu, and M.X. Guan Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation Biochem. Biophys. Res. Commun. 328 2005 1139 1145
13. Y. Qian, X. Zhou, Y. Hu, Y. Tong, R. Li, F. Lu, H. Yang, J.Q. Mo, J. Qu, and M.X. Guan Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy Biochem. Biophys. Res. Commun. 332 2005 614 621
14. Met may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family, Invest. Ophth. Vis. Sci. (in press).
15. S. Anderson, A.T. Bankier, B.G. Barrell, M.H.L. deBruijn, A.R. Coulson, J. Drouin, I.C. Eperon, D.P. Nierlich, B.A. Rose, F. Sanger, P.H. Schreier, A.J.H. Smith, R. Staden, and I. Young Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
16. M.J. Rieder, S.L. Taylor, V.O. Tobe, and D.A. Nickerson Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome Nucleic Acids Res. 26 1981 967 973
17. D.D. De Vries, L.N. Went, G.W. Bruyn, H.R. Scholte, R.M. Hofstra, P.A. Bolhuis, and B.A. van Oost Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia Am. J. Hum. Genet. 58 1996 703 711
18. M.J. Bibb, R.A. Van Etten, C.T. Wright, M.W. Walberg, and D.A. Clayton Sequence and gene organization of mouse mitochondrial DNA Cell 26 1981 167 180
19. G. Gadaleta, G. Pepe, G. De Candia, C. Quagliariello, E. Sbisa, and C. Saccone The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates J. Mol. Evol. 28 1989 497 516
20. A. Roe, D.P. Ma, R.K. Wilson, and J.F. Wong The complete nucleotide sequence of the Xenopus laevis mitochondrial genome J. Biol. Chem. 260 1985 9759 9774
21. I.M. Fearnley, and J.E. Walker Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins Biochim. Biophys. Acta 1140 1992 105 134
22. A. Torroni, M. Petrozzi, L. D'Urbano, D. Sellitto, M. Zeviani, F. Carrara, C. Carducci, V. Leuzzi, V. Carelli, P. Barboni, A. De Negri, and R. Scozzari Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 Am. J. Hum. Genet. 60 1997 1107 1121
23. M.D. Brown, E. Starikovskaya, O. Derbeneva, S. Hosseini, J.C. Allen, I.E. Mikhailovskaya, R.I. Sukernik, and D.C. Wallace The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum. Genet. 110 2002 130 138
24. N. Howell, R.J. Oostra, P.A. Bolhuis, L. Spruijt, L.A. Clarke, D.A. Mackey, G. Preston, and C. Herrnstadt Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy Am. J. Hum. Genet. 72 2003 1460 1469
25. M. Tanaka, V.M. Cabrera, A.M. Gonzalez, J.M. Larruga, T. Takeyasu, N. Fuku, L.J. Guo, R. Hirose, Y. Fujita, M. Kurata, K. Shinoda, K. Umetsu, Y. Yamada, Y. Oshida, Y. Sato, N. Hattori, Y. Mizuno, Y. Arai, N. Hirose, S. Ohta, O. Ogawa, Y. Tanaka, R. Kawamori, M. Shamoto-Nagai, W. Maruyama, H. Shimokata, R. Suzuki, and H. Shimodaira Mitochondrial genome variation in eastern Asia and the peopling of Japan Genome Res. 2004 1832 1850