SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I

Annals of Neurology

Volumn 56, Issue 2, 2004, Pages 182-191

  Qi, Xiaoping ^a   Lewin, Alfred S ^a   Sun, Liang ^a   Hauswirth, William W ^a   Guy, John ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PARVOVIRUS VECTOR; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOZYME;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; COMPLEX 1 DEFICIENCY; CONTROLLED STUDY; GENE; GENE MUTATION; GENE TRANSFER; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MOUSE; NDUFA1 GENE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; OPTIC NERVE FIBER; OXIDATIVE STRESS; PRIORITY JOURNAL; RESPIRATORY CHAIN; RETINA GANGLION CELL; SOD2 GENE; VIRAL GENE DELIVERY SYSTEM; VISUAL SYSTEM;

ANIMALS; APOPTOSIS; BLOTTING, NORTHERN; CELL COUNT; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; ETHIDIUM; FLUORESCEINS; FUNCTIONAL LATERALITY; GENE THERAPY; GENE TRANSFER TECHNIQUES; HUMANS; IN SITU NICK-END LABELING; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MICE; MICE, INBRED DBA; MICROSCOPY, ELECTRON; NADH DEHYDROGENASE; NIH 3T3 CELLS; OPTIC NERVE; OPTIC NERVE DISEASES; REACTIVE OXYGEN SPECIES; RETINAL GANGLION CELLS; RNA, CATALYTIC; SUPEROXIDE DISMUTASE;

EID: 3843127507     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20175     Document Type: Article

References (34)

1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:l427-1430.
2. DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001;106:18-26.
3. Schon EA, DiMauro S. Medicinal and genetic approaches to the treatment of mitochondrial disease. Curr Med Chem 2003;10:2523-2533.
4. Deschauer M, Bamberg C, Claus D, et al. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neuroloev 2003;60:1357-1359.
5. Morris AA, Leonard JV, Brown GK, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996;40:25-30.
6. Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003;72:333-339.
7. Barren MJ, Griffiths P, Turnbull DM, et al. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol 2004;88:286-290.
8. Howell N. Human mitochondrial diseases: answering questions and questioning answers. Int Rev Cytol 1999;186:49-116.
9. Barrientos A, Moraes CT. Titrating the effects of mitochondrial complex I impairment in the cell physiology. J Biol Chem 1999;274:16188-16197.
10. Ghelli A, Zanna C, Porcelli AM, et al. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem 2003;278:4145-4150.
11. Li N, Ragheb K, Lawler G, et al. Mitochondrial complex I inhibitor rotenone induces apoptosis through enhancing mitochondrial reactive oxygen species production. J Biol Chem 2003;278:8516-8525.
12. Au HC, Seo BB, Matsuno-Yagi A, et al. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. Proc Natl Acad Sci USA 1999;96:4354-4359.
13. Qi X, Lewin AS, Hauswirth WW, et al. Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 2003;53:198-205.
14. Wong A, Cavelier L, Collins-Schramm HE, et al. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 2002;11:431-438.
15. Manfredi G, Kwong JQ, Oca-Cossio JA, et al. Bcl-2 suppresses oxidative phosphorylation defects caused by mitochondrial DNA mutations. Sci World J 2001;1:39.
16. Cortopassi G, Wang E. Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death. Biochim Biophys Acta 1995;1271:171-176.
17. Kokoszka JE, Coskun P, Esposito LA, et al. Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis. Proc Natl Acad Sci USA 2001;98: 2278-2283.
18. Sandbach JM, Coscun PE, Grossniklaus HE, et al. Ocular pathology in mitochondrial Superoxide dismutase (Sod2)-deficient mice. Invest Ophthalmol Vis Sci 2001;42:2173-2178.
19. Wallace DC. Mouse models for mitochondrial disease. Am J Med Genet 2001;106:71-93.
20. Hauswirth WW, Lewin AS, Zolotukhin S, et al. Production and purification of recombinant AAV vectors. In: Palczewski K, ed. Vertebrate phototransduction and the visual cycle. Vol 316. New York: Academic Press, 2000:743-761.
21. LeBel CP, Ali SF, Bondy SC. Deferoxamine inhibits methyl mercury-induced increases in reactive oxygen species formation in rat brain. Toxicol Appl Pharmacol 1992;112:161-165.
22. Mancini M, Anderson BO, Caldwell E, et al. Mitochondrial proliferation and paradoxical membrane depolarization during terminal differentiation and apoptosis in a human colon carcinoma cell line. J Cell Biol 1997;138:449-469.
23. Guy J, Qi X, Hauswirth WW. Adeno-associated viral-mediated catalase expression suppresses optic neuritis in experimental allergic encephalomyelitis. Proc Natl Acad Sci USA 1998;95:13847-13852.
24. Drenser KA, Timmers AM, Hauswirth WW, et al. Ribozyme-targeted destruction of RNAs associated with ADRP. Invest Ophthalmol Vis Sci 1998;39:681-689.
25. Qi X, Lewin AS, Hauswirth WW, et al. Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 2003;53:198-205.
26. Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002;40:573-584.
27. Wittig I, Augstein P, Brown GK, et al. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. J Inherit Metab Dis 2001;24:15-27.
28. Melov S, Coskun PE, Wallace DC. Mouse models of mitochondrial disease, oxidative stress, and senescence. Mutat Res 1999;434:233-242.
29. Zhang X, Jones D, Gonzalez-Lima F. Mouse model of optic neuropathy caused by mitochondrial complex I dysfunction. Neurosci Lett 2002;326:97-100.
30. Brown MD, Trounce IA, Jun AS, et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem 2000;275:39831-39836.
31. Trounce I, Kim YL, Jun AS, Wallace DC. In: Attardi GM, Chomyn A, eds. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies lymphoblasts and transmitochondrial cell lines. In: Mitochondrial biogenesis and genetics. San Diego: Academic Press, 1996;484-509.
32. Flierl A, Jackson C, Cottrell B, et al. Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acid. Mol Ther 2003;7:550-557.
33. Guy J, Qi X, Pallotti F, et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy. Ann Neurol 2002;52:534-542.
34. Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-399.