Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy

Molecular Vision

Volumn 15, Issue , 2009, Pages 870-875

  Hudson, Gavin ^a   Yu Wai Man, Patrick ^a   Zeviani, Massimo ^b   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); MITOCHONDRIAL DNA;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BLINDNESS; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OPTIC ATROPHY, HEREDITARY, LEBER; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 65549098793     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 1996; 103:504-14.
2. Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995; 32:81-7.
3. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11 778 mutation. Am J Ophthalmol 1991; 111:750-62.
4. Bu XD, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991; 88:8198-202.
5. Chen JD, Cox I, Denton MJ. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet 1989; 82:203-7.
6. Handoko HY, Wirapati PJ, Sudoyo HA, Sitepu M, Marzuki S. Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy. J Med Genet 1998; 35:668-71.
7. Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE. Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 1992; 51:741-8.
8. Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited Mitochondrial Optic Neuropathies. J Med Genet. 2008
9. Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SW, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James SJ, Rozen R. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 2001; 10:433-43.
10. van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995; 346:1070-1.
11. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heije M, Kluijtmans LAJ, van den Heuve LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10:111-3.
12. Markan S, Sachdeva M, Sehrawat BS, Kumari S, Jain S, Khullar M. MTHFR 677 CT/MTHFR 1298 CC genotypes are associated with increased risk of hypertension in Indians. Mol Cell Biochem 2007; 302:125-31.
13. Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, Curtis Ellison R, Eckfeldt JH, Rozen R. The 1298A←C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 2001; 156:409-15.
14. Clarke R, Smith AD, Jobst KA, Refsum H, Sutton L, Ueland PM. Folate, vitamin B12, and serum total homocysteine levels in confirmed Alzheimer disease. Arch Neurol 1998; 55:1449-55.
15. Genedani S, Rasio G, Cortelli P, Antonelli F, Guidolin D, Galantucci M, Fuxe K, Agnati LF. Studies on homocysteine and dehydroepiandrosterone sulphate plasma levels in Alzheimer's disease patients and in Parkinson's disease patients. Neurotox Res 2004; 6:327-32.
16. Anello G, Guéant-Rodríguez RM, Bosco P, Guéant JL, Romano A, Namour B, Spada R, Caraci F, Pourié G, Daval JL, Ferri R. Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease. Neuroreport 2004; 15:859-61.
17. Yasui K, Kowa H, Nakaso K, Takeshima T, Nakashima K. Plasma homocysteine and MTHFR C677T genotype in levodopa-treated patients with PD. Neurology 2000; 55:437-40.
18. Chambers JC, McGregor A, Jean-Marie J, Kooner JS. Acute hyperhomocysteinaemia and endothelial dysfunction. Lancet 1998; 351:36-7.
19. Upchurch GR Jr, Welch GN, Fabian AJ, Freedman JE, Johnson JL, Keaney JF Jr, Loscalzo J. Homocyst(e)ine decreases bioavailable nitric oxide by a mechanism involving glutathione peroxidase. J Biol Chem 1997; 272:17012-7.
20. Howell N. Leber Hereditrary Optic Neruopathy: mitochondrial mutations and degenration of the optic nerve. Vision Res 1997; 37:3495-507.
21. Moore P, El-sherbeny A, Roon P, Schoenlein PV, Ganapathy V, Smith SB. Apoptotic cell death in the mouse retinal ganglion cell layer is induced in vivo by the excitatory amino acid homocysteine. Exp Eye Res 2001; 73:45-57.
22. Weger M, Stanger O, Deutschmann H, Simon M, Renner W, Schmut O, Semmelrock J, Haas A. Hyperhomocyst(e)inaemia, but not MTHFR C677T mutation, as a risk factor for non-arteritic ischaemic optic neuropathy. Br J Ophthalmol 2001; 85:803-6.
23. Weger M, Stanger O, Haas A. Hyperhomocysteinemia: a risk factor for central retinal vein occlusion. Am J Ophthalmol 2001; 131:290-1.
24. Golnik KC, Schaible ER. Folate-responsive optic neuropathy. J Neuroophthalmol 1994; 14:163-9.
25. Hsu CT, Miller NR, Wray ML. Optic neuropathy from folic acid deficiency without alcohol abuse. Ophthalmologica 2002; 216:65-7.
26. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29:308-11.