The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy

Pharmacogenomics Journal

Volumn 8, Issue 1, 2008, Pages 71-77

  Canter, J A ^a   Haas, D W ^b   Kallianpur, A R ^b   Ritchie, M D ^a   Robbins, G K ^c   Shafer, R W ^d   Clifford, D B ^e   Murdock, D G ^a   Hulgan, T ^b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d STANFORD UNIVERSITY   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIRETROVIRUS AGENT; DIDANOSINE; EFAVIRENZ; LAMIVUDINE PLUS ZIDOVUDINE; MITOCHONDRIAL DNA; NELFINAVIR; RNA DIRECTED DNA POLYMERASE INHIBITOR; STAVUDINE; VIRUS RNA;

ACQUIRED IMMUNE DEFICIENCY SYNDROME; ADULT; AGE; ARTICLE; CAUCASIAN; CD4 LYMPHOCYTE COUNT; CLINICAL TRIAL; CONFIDENCE INTERVAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; FEMALE; GENOME; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTED PATIENT; MALE; MITOCHONDRIAL GENE; PERIPHERAL NEUROPATHY; PHARMACOGENOMICS; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; RISK ASSESSMENT; VIRUS LOAD;

ADULT; ANTIRETROVIRAL THERAPY, HIGHLY ACTIVE; DNA; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; NADH DEHYDROGENASE; PERIPHERAL NERVOUS SYSTEM DISEASES; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TREATMENT OUTCOME;

EID: 38349127924     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/sj.tpj.6500470     Document Type: Article

References (49)

1. Palella Jr FJ, Delaney KM, Moorman AC, Loveless MO, Fuhrer J, Satten GA et al. Declining morbidity and mortality among patients with advanced human immunodeficiency virus infection. HIV Outpatient Study Investigators. N Engl J Med 1998; 338: 853-860.
2. Mocroft A, Ledergerber B, Katlama C, Kirk O, Reiss P, d'Arminio Monforte A et al. Decline in the AIDS and death rates in the EuroSIDA study: An observational study. Lancet 2003; 362: 22-29.
3. Kakuda TN. Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity. Clin Ther 2000; 22: 685-708.
4. Dagan T, Sable C, Bray J, Gerschenson M. Mitochondrial dysfunction and antiretroviral nucleoside analog toxicities: What is the evidence. Mitochondrion 2002; 1: 397-412.
5. Gertner E, Thum JR, Williams DN, Simpson M, Balfour Jr HH, Rhame F et al. Zidovudine-associated myopathy. Am J Med 1989; 86: 814-818.
6. Lewis W, Copeland WC, Day BJ. Mitochondrial DNA depletion, oxidative stress, and mutation: Mechanisms of dysfunction from nucleoside reverse transcriptase inhibitors. Lab Invest 2001; 81: 777-790.
7. Walker UA, Bauerle J, Laguno M, Murillas J, Mauss S, Schmutz G et al Antiretroviral therapy with diclanosine, stauvdine and zalcitabine is associated with depletion of mtDNA in the liver. Antivir Ther 2003; 8: L15-L16.
8. Lewis W, Day BJ, Copeland WC. Mitochondrial toxicity of NRTI antiviral drugs: An intergrated cellular perspective. Nat Rev Drug Discov 2003; 2: 812-822.
9. Genschenson M, Nguyen VT, St Claire MC, Harbaugh SW, Harbaugh JW, Praia LA et al. Chronic stavudine exposure induces hepatic mitochondrial toxicity in adult Erythorrebus patas monkeys. J Hum Virol 2001; 4: 335-342.
10. Moyle G. Clinical manifestations and management of antiretroviral nucleoside analog-related mitochondrial toxicity. Clin Ther 2000, 22: 911-936.
11. Browne MJ, Mayer KH, Chafee SB, Dudley MN, Posner MR, Steinberg SM et al. 2′,3′-didehydro-3′-deoxythymidine (d4T) in patients with AIDS or AIDS-related complex: A phase I trial. J Infect Dis 1993; 167: 21-29.
12. Kelleher T, Cross A, Dunkle L. Relation of peripheral neuropathy to HIV treatment in four randomized clinical trials including didanosine. Clin Ther 1999; 21: 1182-1192.
13. Keswani SC, Pardo CA, Cherry CL, Hoke A, McArthur JC. HIV-associated sensory neuropathies. AIDS 2002; 16: 2105-2117.
14. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656-2668.
15. Wallace DC, Brown MD, Lott MT, Mitochondrial DNA variation in human evolution and disease. Gene 1999; 238: 211-230.
16. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283: 1482-1488.
17. Brew BJ, Tisch S, Law M. Lactate concentrations distinguish between nucleoside neuropathy and HIV neuropathy. AIDS 2003; 17: 1094-1096.
18. Dalakas MC, Semino-Mora C, Leon-Monzon M. Mitochondrial alterations with mitochondrial DNA depletion in the nerves of AIDS patients with peripheral neuropathy induced by 2′3′-dideoxycytidine (ddC). Lab Invest 2001; 81: 1537-1544.
19. Wallace DC. Mitochonrdrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 1994; 91: 8739-8746.
20. Papa S. Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications. Biochim Biophys Acta 1996; 1276: 87-105.
21. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
22. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R et al. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144: 1835.
23. Hermstadt C, Howell N. An evolutionary perspetive on pathogenic mtDNA mutations:, haplogroup associations of clinical disorders. Mitochondrion 2004; 4: 791-798.
24. van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003; 72: 804-811.
25. van der Wait JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC et al. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 2004; 365: 28-32.
26. Shaffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS et al Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 1993; 17: 171-184.
27. Giacchetti M, Monticelli I, De Biase L, Pianese L, Turano M, Filla A et al. Mitochondrial DNA haplogroups influence the Friedreich's phenotype. J Med Gen 2004; 41: 293-295.
28. Mancuso M, Francesca LC, Rocchi A, Tessitore A, Muglia M, Tedeschi G et al. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neurosci Lett 2004; 371: 158-162.
29. Hulgan T, Haas DW, Haines JL, Ritchie MD, Robbins GK, Shafer RW et al Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: An adult AIDS clinical trials group study. AIDS 2005; 19: 1341-1349.
30. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E et al. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 2000; 67: 682-696.
31. Hoffman S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Disease relevance of the so-called secondary Leber hereditary neuropathy mutations. Am J Hum Genet 1997; 60: 1539-1542.
32. Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P et al. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 1997; 39: 8-18.
33. Ross OA, McCormack R, Maxwell LD, Duguid RA, Quinn DJ, Barnett YA et al. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol 2003; 38 397-405.
34. Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F 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.
35. Orth M, Schapira AH. Mitoctiondrial involvement in Parkinson's disease. Neurochem Int 2002; 40: 533-541.
36. Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Pharmacogenomics 2005; 6: 27-36.
37. Peters U, Preisler-Adamis S, Lanvers-Kaminsky C, Jurgens H, Lamprecht-Dinnesen A. Sequence variations of mitochctndrial DNA and individual sensitivity to the ototoxic effect of cisplatin. Anticancer Res 2003; 23: 1249-1255.
38. Smeitink J, van den Heuvel L. Human mitochondrial complex I in health and disease. Am J Hum Genet 1996; 4 1505-1510.
39. Robinson BH. Human Complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1998; 1364: 271-286.
40. De Benedictis G, Rose G, Carrieri, G, De Luca M, Falcone E, Passarino C et al. Mitochoridrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J 1999; 13: 1532.
41. Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 and 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997; 60: 381-387.
42. Torroni A, Petrozzi M, D'Urbano I., Sellitto D, Zeviani M, Carrara F 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
43. Luke C, Cornely OA, Fricke J, Lehrer E, Bartz-Schmidt KU. Late onset of Leber's hereditary optic neuropathy in HIV infection. Br J Ophthalmol 1999; 83: 1204-1205.
44. Luzhansky JZ, Pierce AB, Hoy JF, Hall AJ. Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity. AIDS 2001; 15: 1588-1589.
45. Mackey DA, Fingert JH, Luzhansky JZ, McCluskey 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.
46. Shaikh S, Ta C, Basham AA, Mansour S. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immuno-deficiency virus infection. Am J Ophthalmol 2001; 131: 143-145.
47. Warner JE, Ries KM. Optic neuropathy in a patient with AIDS. J Neuroophthalmol 2001; 21: 92-94.
48. Shafer RW, Smeaton LM, Robbins GK, De Gruttola V, Snyder SW, D'Aquila RT et al. Comparison of four-drug regimens and pairs of sequential three-drug regimens as initial therapy for HIV-1 infection. N Engl J Med 2003; 349: 2304-2315.
49. Haas DW, Wilkinson GR, Kuritzkes DR, Richman DD, Nicotera J, Mahon LF et al. A multi-investigator/institutionaI DNA bank for AIDS-related human genetic studies: AACTG Protocol A5128. HIV Clin Trials 2003; 4: 287-300.