The role of mitochondrial haplogroups in non-arteritic anterior ischemic optic neuropathy

Ophthalmic Genetics

Volumn 29, Issue 3, 2008, Pages 111-116

  Abu Amero, Khaled K ^a   Larruga, Jose M ^b   Gonzalez, Ana M ^b   Bosley, Thomas M ^c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b UNIVERSIDAD DE LA LAGUNA   (Spain)

^c Department of Anesthesiology   (United States)

Author keywords

Arabs; Haplogrouping; Mitochondrial DNA; Non arteritic ischemic optic neuropathy; Optic neuropathy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; HAPLOTYPE; HUMAN; ISCHEMIC OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; OPTIC NEUROPATHY, ISCHEMIC; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 51049123002     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802183748     Document Type: Article

References (38)

1. Fuku N, Park KS, Yamada Y, et al. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genetics. 2007;80:407-415.
2. Wallace DC, Shoffner JM, Trounce I, et al. Mitochondrial DNA mutations in human degenerative diseases and aging. Biochimica et Biophysica Acta. 1995;1271:141-151.
3. Wang L, Bamlet WR, de Andrade M, et al. Mitochondrial genetic polymorphisms and pancreatic cancer risk. Cancer Epidemiol Biomarkers Prev. 2007;16:1455-1459.
4. Li XY, Su M, Huang HH, Li H, Tian DP, Gao YX. mtDNA evidence: Genetic background associated with related populations at high risk for esophageal cancer between Chaoshan and Taihang Mountain areas in China. Genomics. 2007;90:474-481.
5. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 2007;67:4687-4694.
6. Xu L, Hu Y, Chen B, et al. Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China. Int J Gynecol Cancer. 2006;16:1661-1667.
7. Samuels DC, Carothers AD, Horton R, Chinnery PF. The power to detect disease associations with mitochondrial DNA haplogroups. Am J Hum Genetics. 2006;78:713-720.
8. Ghezzi D, Marelli C, Achilli A, et al. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genetics. 2005;13:748-752.
9. Otaegui D, Saenz A, Martinez-Zabaleta M, et al. Mitochondrial haplogroups in Basque multiple sclerosis patients. Multiple Sclerosis. 2004;10:532-535.
10. Carelli V, Achilli A, Valentino ML, et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am JHum Genetics. 2006;78:564-574.
11. Torroni A, Carelli V, Petrozzi M, et al. Detection of the mtDNA 14484 mutation on an African-specific haplotype: Implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genetics. 1996;59:248-252.
12. 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 Genetics. 2007;81:228-233.
13. Bosley TM, Abu-Amero KK, Ozand PT. Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy. Neurology. 2004;63:1305-1308.
14. Abu-Amero KK, Bosley TM. Increased relative mitochondrial DNA content in leucocytes of patients with NAION. Br J Ophthalmol. 2006;90:823-825.
15. Abu-Amero KK, Bosley TM. Prothrombotic and atherosclerotic risk factors lack significance in NAION patients harbouring mitochondrial DNA mutations. Br J Ophthalmol. 2006;90:119-120.
16. Optic nerve decompression surgery for nonarteritic anterior ischemic optic neuropathy (NAION) is not effective and may be harmful. The Ischemic Optic Neuropathy Decompression Trial Research Group. JAMA. 1995;273:625-632.
17. Bosley TM, Constantinescu CS, Tench CR, Abu-Amero KK. Mitochondrial changes in leukocytes of patients with optic neuritis. Molecular Vision. 2007;13:1516-1528.
18. Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Visual Sci. 2006;47:2533-2541.
19. Abu-Amero KK, Bosley TM. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest OphthalmoVisual Sci. 2006;47:4211-4220.
20. Abu-Amero KK, Al-Boudari OM, Mohamed GH, Dzimiri N. E-selectin S128R polymorphism and severe coronary artery disease in Arabs. BMC MedGenetics. 2006;7:52.
21. Abu-Amero KK, Bosley TM. Mitochondrial DNA abnormalities in NAION. Br J Ophthalmol. 2007;91:1561.
22. Abu-Amero KK, Larruga JM, Cabrera VM, Gonzalez AM. Mitochondrial DNA structure in the Arabian Peninsula. BMC Evol Biol. 2008;8:45.
23. Brandon MC, Lott M, Nguyen KC, et al. MITOMAP: A human mitochondrial genome database - 2004 update. URL: http://www.mitomap.org. Nucleic Acids Research. 2005;33(Database Issue):D611-3. Accessed March 2008.
24. Chinnery PF, Howell N, Andrews RM, Turnbull DM. Mitochondrial DNA analysis: Polymorphisms and pathogenicity. J Med Genetics. 1999;36:505-510.
25. Sunyaev S, Ramensky V, Koch I, Lathe W, 3rd, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genetics. 2001;10:591-597.
26. Kao SH, Chao HT, Liu HW, Liao TL, Wei YH. Sperm mitochondrial DNA depletion in men with asthenospermia. Fertil Steril. 2004;82:66-73.
27. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM. Major genomic mitochondrial lineages delineate early human expansions. BMC Genetics. 2001;2:13.
28. Torroni A, Huoponen K, Francalacci P, et al. Classification of European mtDNAs from an analysis of three European populations. Genetics. 1996;144:1835-1850.
29. Richards M, Macaulay V, Hickey E, et al. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet. 2000;67:1251-1276.
30. Chen YS, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC. mtDNA variation in the South African Kung and Khwe - Andtheir genetic relationships to other African populations. Am J Hum Genetics. 2000;66:1362-1383.
31. Kivisild T, Shen P, Wall DP, et al. The role of selection in the evolution of human mitochondrial genomes. Genetics. 2006;172:373-387.
32. Abu-Amero KK, Gonzalez AM, Larruga JM, Bosley TM, Cabrera VM. Eurasian and African mitochondrial DNA influences in the Saudi Arabian population. BMC Evol Biol. 2007;7:32.
33. Gonzalez AM, Larruga JM, Abu-Amero KK, Shi Y, Pestano J, Cabrera VM. Mitochondrial lineage M1 traces an early human backflow to Africa. BMC Genomics. 2007;8:223.
34. Characteristics of patients with nonarteritic anterior ischemic optic neuropathy eligible for the Ischemic Optic Neuropathy Decompression Trial. Arch Ophthalmol. 1996;114:1366-1374.
35. 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 Genetics. 1997;60:1107-1121.
36. Salomon O, Huna-Baron R, Kurtz S, et al. Analysis of prothrombotic and vascular risk factors in patients with nonarteritic anterior ischemic optic neuropathy. Ophthalmology. 1999;106:739-742.
37. Egan R. Prothrombotic and vascular risk factors in NAION. Ophthalmology. 2000;107:2116-2117.
38. Boghen DR, Glaser JS. Ischemic optic neuropathy. Brain 1975;98:689-708.