Mitochondrial haplogroups are associated with risk of neuroretinal disorder in HIV-positive patients

Journal of Acquired Immune Deficiency Syndromes

Volumn 53, Issue 4, 2010, Pages 451-455

  Hendrickson, Sher L ^a   Jabs, Douglas A ^b,c   Van Natta, Mark ^c   Lewis, Richard Alan ^d   Wallace, Douglas C ^e   O'Brien, Stephen J ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

AIDS; Mitochondrial DNA; Neuroretinal disorder

Indexed keywords

DNA;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ADULT; ARTICLE; DISEASE COURSE; FEMALE; GENOTYPE; HAZARD RATIO; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTED PATIENT; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; LIPOATROPHY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA DISEASE;

ADULT; FEMALE; GENE FREQUENCY; HAPLOTYPES; HIV INFECTIONS; HUMANS; IMMUNITY, INNATE; MALE; MIDDLE AGED; MITOCHONDRIA; OPTIC NERVE DISEASES; POLYMORPHISM, GENETIC; RETINAL DISEASES; RISK FACTORS;

EID: 77949373148     PISSN: 15254135     EISSN: None     Source Type: Journal    
DOI: 10.1097/QAI.0b013e3181cb8319     Document Type: Article

References (30)

1. Jabs DA. Ocular manifestations of HIV infection. Trans Am Ophthalmol Soc. 1995;93:623-683.
2. Jabs DA, Van Natta ML, Holbrook JT, et al. Longitudinal study of the ocular complications of AIDS: 1. Ocular diagnoses at enrollment. Ophthalmology. 2007;114:780-786.
3. Jabs DA, Van Natta ML, Holbrook JT, et al. Longitudinal study of the ocular complications of AIDS: 2. Ocular examination results at enrollment. Ophthalmology. 2007;114:787-793.
4. Thorne JE, Jabs DA, Kempen JH, et al. Incidence of and risk factors for visual acuity loss among patients with AIDS and cytomegalovirus retinitis in the era of highly active antiretroviral therapy 1. Ophthalmology. 2006; 113:1432-1440.
5. Thorne JE, Holbrook JT, Jabs DA, et al. Effect of cytomegalovirus retinitis on the risk of visual acuity loss among patients with AIDS. Ophthalmology. 2007;114:591-598.
6. Mueller AJ, Plummer DJ, Dua R, et al. Analysis of visual dysfunctions in HIV-positive patients without retinitis. Am J Ophthalmol. 1997;124: 158-167.
7. Shah KH, Holland GN, Yu F, et al. Contrast sensitivity and color vision in HIV-infected individuals without infectious retinopathy. Am J Ophthalmol. 2006;142:284-292.
8. Plummer DJ, Marcotte TD, Sample PA, et al. Neuropsychological impairment-associated visual field deficits in HIV infection. HNRC Group. HIV Neurobehavioral Research Center. Invest Ophthalmol Vis Sci. 1999;40:435-442.
9. Freeman WR, Van Natta ML, Jabs D, et al. Vision function in HIV-infected individuals without retinitis: report of the studies of ocular complications of AIDS Research Group. Am J Ophthalmol. 2008;145: 453-462.
10. Tenhula WN, Xu S, Madigan MC, et al. Morphometric comparisons of optic nerve axon loss in acquired immunodeficiency syndrome. Am J Ophthalmol. 1992;113:14-20.
11. West SK, Rubin GS, Broman AT, et al. How does visual impairment affect performance on tasks of everyday life? The SEE Project. Salisbury Eye Evaluation. Arch Ophthalmol. 2002;120:774-780.
12. Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int. 2002;40:573-584.
13. Carelli V, Ghelli A, Bucchi L, et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol. 1999;45:320-328.
14. Fauser S, Luberichs J, Besch D, et al. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem Biophys Res Commun. 2002;295:342-347.
15. Valentino ML, Barboni P, Ghelli A, et al. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol. 2004;56:631-641.
16. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242: 1427-1430.
17. Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation asso-ciatedwith WesternEurasianhaplogroupJ.Hum Genet. 2002;110:130-138.
18. 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. 1997;60:1107-1121.
19. Miura T, Goto M, Hosoya N, et al. Depletion of mitochondrial DNA in HIV-1-infected patients and its amelioration by antiretroviral therapy. J Med Virol. 2003;70:497-505.
20. Jaruga P, Jaruga B, Gackowski D, et al. Supplementation with antioxidant vitamins prevents oxidative modification of DNA in lymphocytes of HIV-infected patients. Free Radic Biol Med. 2002;32: 414-420.
21. Mackey DA, Fingert JH, Luzhansky JZ, et al. Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye. 2003;17:312-317.
22. Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. Mitochondrial DNA haplogroups influence AIDS progression. AIDS. 2008;22:2429-2439.
23. Tarwater PM, Mellors J, Gore ME, et al. Methods to assess population effectiveness of therapies in human immunodeficiency virus incident and prevalent cohorts. Am J Epidemiol. 2001;154:675-681.
24. Hendrickson SL, Kingsley L, Ruiz-Pesini E, et al. Mitochondrial DNA haplogroups influence lipoatrophy after highly active anti-retroviral therapy. J Acquir Immune Defic Syndr. 2009;51:111-116.
25. Hulgan T, Haas DW, Haines JL, et al. Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study. AIDS. 2005;19:1341-1349.
26. Hulgan T, Tebas P, Canter JA, et al. Hemochromatosis gene polymorphisms, mitochondrial haplogroups, and peripheral lipoatrophy during antiretroviral therapy. J Infect Dis. 2008;197:858-866.
27. Warner JE, Ries KM. Optic neuropathy in a patient with AIDS. J Neuroophthalmol. 2001;21:92-94.
28. Shaikh S, Ta C, Basham AA, et al. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection. Am J Ophthalmol. 2001;131:143-145.
29. Luke C, Cornely OA, Fricke J, et al. Late onset of Leber's hereditary optic neuropathy in HIV infection. Br J Ophthalmol. 1999;83:1204-1205.
30. Baudouin SV, Saunders D, Tiangyou W, et al. Mitochondrial DNA and survival after sepsis: a prospective study. Lancet. 2005;366:2118-2121.