Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

Ophthalmology

Volumn 116, Issue 3, 2009, Pages

  Qu, Jia ^a   Zhou, Xiangtian ^a   Zhang, Juanjuan ^a   Zhao, Fuxin ^a   Sun, Yan Hong ^b   Tong, Yi ^a,c   Wei, Qi Ping ^b   Cai, Wansi ^a   Yang, Li ^d   West, Constance E ^d,e   Guan, Min Xin ^a,d,e  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b BEIJING UNIVERSITY OF CHINESE MEDICINE   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

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

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

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; EVOKED VISUAL RESPONSE; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; HAPLOTYPE; HERITABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPHTHALMOSCOPY; PEDIGREE; PENETRANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT;

EID: 61349185063     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2008.10.022     Document Type: Article

References (35)

1. Newman N.J., and Wallace D.C. Mitochondria and Leber's hereditary optic neuropathy. Am J Ophthalmol 109 (1990) 726-730
2. Brown M.D., and Wallace D.C. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Clin Neurosci 2 (1994) 134-145
3. Man P.Y., Turnbull D.M., and Chinnery P.F. Leber hereditary optic neuropathy. J Med Genet 39 (2002) 162-169
4. Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res 37 (1997) 3495-3507
5. Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 1427-1430
6. Howell N. LHON and other optic nerve atrophies: the mitochondrial connection. Dev Ophthalmol 37 (2003) 94-108
7. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 14 (2004) 107-116
8. Brown M.D., Torroni A., Reckord C.L., and Wallace D.C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat 6 (1995) 311-325
9. Mackey D.A., Oostra R.J., Rosenberg T., et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59 (1996) 481-485
10. Mashima Y., Yamada K., Wakakura M., et al. 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. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 148 (1990) 651-653
12. Qu J., Li R., Tong T., et al. 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. Hudson G., Carelli V., Spruijt L., et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81 (2007) 228-233
14. Johns D.R., and Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174 (1991) 1324-1330
15. Torroni A., Petrozzi M., D'Urbano L., et al. 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
16. Brown M.D., Starikovskaya E., Derbeneva O., et al. 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
17. Howell N., Oostra R.J., Bolhuis P.A., et al. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 72 (2003) 1460-1469
18. Qian Y., Zhou X., Hu Y., et al. 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
19. Met may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Invest Ophthalmol Vis Sci 47 (2006) 475-483
20. Thr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene 376 (2006) 79-86
21. Qu J., Li R., Zhou X., et al. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. Mitochondrion 7 (2007) 140-146
22. Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of the human mitochondrial genome. Nature 290 (1981) 457-465
23. Woischnik M., and Moraes C.T. Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. Genome Res 12 (2002) 885-893
24. Rieder M.J., Taylor S.L., Tobe V.O., and Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 26 (1998) 967-973
25. Young W.Y., Zhao L., Qian Y., et al. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem Biophys Res Commun 328 (2005) 1244-1251
26. Thr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees. Am J Med Genet 146A (2008) 1248-1258
27. Brandon M.C., Lott M.T., Nguyen K.C., et al. MITOMAP:a human mitochondrial genome database-2004 update. Nucleic Acids Res 33 database issue (2005) D611-D613
28. Bibb M.J., Van Etten R.A., Wright C.T., et al. Sequence and gene organization of mouse mitochondrial DNA. Cell 26 (1981) 167-180
29. Gadaleta G., Pepe G., De Candia G., et al. 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
30. Roe A., Ma D.P., Wilson R.K., and Wong J.F. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. J Biol Chem 260 (1985) 9759-9774
31. Harding A.E., Sweeney M.G., Govan G.G., and Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57 (1995) 77-86
32. Newman N.J., Lott M.T., and Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111 (1991) 750-762
33. Nikoskelainen E.K. Clinical picture of LHON. Clin Neurosci 2 (1994) 115-120
34. Howell N., Kubacka I., Xu M., and McCullough D.A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppression mutation. Am J Hum Genet 48 (1991) 935-942
35. Tanaka M., Cabrera V.M., González A.M., et al. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14 (2004) 1832-1850