Geneenvironment interactions in Leber hereditary optic neuropathy

Brain

Volumn 132, Issue 9, 2009, Pages 2317-2326

  Kirkman, Matthew Anthony ^a   Yu Wai Man, Patrick ^a,b   Korsten, Alex ^c   Leonhardt, Miriam ^d   Dimitriadis, Konstantin ^d   De Coo, Ireneaus F ^c   Klopstock, Thomas ^d   Chinnery, Patrick Francis ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Alcohol; Epigenetics; Leber hereditary optic neuropathy; Mitochondrial DNA; Tobacco

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ALCOHOL CONSUMPTION; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CARRIER; ENVIRONMENTAL EXPOSURE; FEMALE; GENE MUTATION; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; SMOKING; STRUCTURED QUESTIONNAIRE; VISUAL IMPAIRMENT; CLINICAL TRIAL; DRINKING BEHAVIOR; EPIDEMIOLOGY; GENETICS; GERMANY; HETEROZYGOTE; MIDDLE AGED; MULTICENTER STUDY; NETHERLANDS; ONSET AGE; POINT MUTATION; UNITED KINGDOM; VISUAL DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALCOHOL DRINKING; DNA, MITOCHONDRIAL; ENGLAND; EPIDEMIOLOGIC METHODS; FEMALE; GERMANY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE; POINT MUTATION; SMOKING; VISION DISORDERS; YOUNG ADULT;

EID: 70949090567     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp158     Document Type: Article

References (39)

1. Biousse V, Browne MD, Newman NJ, Allen JC, Rosenfeld J, Meola G, et al. De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy. Neurology 1997; 49: 1136-1138.
2. Bland M. An Introduction to medical statistics. 3rd edn., Oxford: Oxford University Press; 2000.
3. Brown MD, Wallace DC. Spectrum of mitochondrial-DNA mutations in Lebers hereditary optic neuropathy. Clin Neurosci 1994; 2: 138-145.
4. Carelli V, Franceschini F, Venturi S, Barboni P, Savini G, Barbieri G, et al. Grand rounds: Could occupational exposure to n-hexane and other solvents precipitate visual failure in Leber hereditary optic neuropathy? Environ Health Perspect 2007; 115: 113-115.
5. Chalmers RM, Harding AE. A case-control study of Leber's hereditary optic neuropathy. Brain 1996; 119: 1481-1486.
6. Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993; 111: 1482-1485.
7. DuBois LG, Feldon SE. Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report. J Clin Neuro-Ophthalmol 1992; 12: 15-16.
8. Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008; 83: 254-260.
9. Golnik KC, Schaible ER. Folate-responsive optic neuropathy. J Neuroophthalmol 1994; 14: 163-169.
10. Gvozdjak J, Gvozdjakova A, Kucharska J, Bada V. The effect of smoking on myocardial metabolism. Czech Med 1987; 10: 47-53.
11. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995; 57: 77-86.
12. Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, 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.
13. Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huponen K, Savontaus ML, et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 2005; 77: 1086-1091.
14. Hwang JM, Park HW. Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy. Korean J Ophthalmol 1996; 10: 122-123.
15. Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 1993; 111: 1491-1494.
16. Kerrison JB, Miller NR, Hsu F, Beaty TH, Maumenee IH, Smith KH, et al. A case-control study of tobacco and alcohol consumption in Leber's hereditary optic neuropathy. Am J Ophthalmol 2000; 130: 803-812.
17. Lam BL. Identical twins no longer discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 1998; 116: 956-957.
18. Mackey DA, Fingert JH, Luzhansky JZ, McCluckey PJ, Howell N, Hall AJ, et al. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye 2003; 17: 312-317.
19. Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, et al. Primary pathogenic mtDNA mutations in multigenera-tion pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996; 59: 481-485. (Pubitemid 26266370)
20. Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003; 72: 333-339.
21. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002; 39: 162-169.
22. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye 2004; 18: 1144-1160.
23. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111: 750-762.
24. Nikoskelainen EK. Clinical picture of LHON. Clin Neurosci 1994; 2: 115-120.
25. Nikoskelainen EK, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU. Leber's hereditary optic neuropathy a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol 1987; 105: 665-671
26. Office for National Statistics.National Statistics Methodological Series No 37: estimating alcohol consumption from survey data: updated method of converting volumes to units. Newport, Wales: Office for National Statistics 2007.
27. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. Clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-337.
28. Rizzo JF III. Adenosine triphosphate deficiency: a genre of optic neuropathy. Neurology 1995; 45: 11-16.
29. Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, et al. Extensive investigation of a large Brazilian pedigree of 11778/ haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2003; 136: 231-238.
30. Sanchez RN, Smith AJ, Carelli V, Sadun AA, Keltner JL. Leber hereditary optic neuropathy possibly triggered by exposure to tire fire. J Neuroophthalmol 2006; 26: 268-272.
31. Seedorff T. The inheritance of Leber's disease. A genealogical follow-up study. Acta Ophthalmol 1985; 63: 135-145.
32. Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, et al. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet 2008; 29: 17-24.
33. Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AH. Smoking and mitochondrial function: a model for environmental toxins. Q J Med 1993; 86: 657-660.
34. Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AH. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci 1994; 122: 80-83.
35. Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol 2006; 141: 676-682.
36. Tan D, Goerlitz DS, Dumitrescu RG, Han D, Seillier-Moiseiwitsch F, Spernak SM, et al. Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells. Carcinogenesis 2008; 29: 1170-1177.
37. Tsao K, Aitken PA, Johns DR. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br J Ophthalmol 1999; 83: 577-581.
38. van Jaarsveld H, Kuyl JM, Alberts DW. Exposure of rats to low concentrations of cigarette smoke increases myocardial sensitivity to ischaemia/reperfusion. Basic Res Cardiol 1992; 87: 393-399.
39. Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet 2009; 46: 145-158