A murine model of transitory optic neuropathy based on small interference RNA-induced OPA1 silencing in vivo (gene mutation associated with Kjer's disease);Modèle murin de neuropathie optique transitoire par inhibition in vivo de l'expression d'OPA1 (gène impliqué dans la maladie de Kjer)

Journal Francais d'Ophtalmologie

Volumn 29, Issue 8, 2006, Pages 875-880

  Depeyre, C ^a   Chen Kuo Chang, M ^a   Payet, O ^a   Cornille, K ^a   Muller, A ^a   Lenaers, G ^a   Hamel, C ^a   Arne J L ^a   Arndt, C ^a  

^a HÔPITAL SAINT ELOI   (France)

Author keywords

Mouse; OPA1; Optic atrophy protein 1; siRNA; Small interfering RNA; Visual evoked potentials

Indexed keywords

OPTIC ATROPHY PROTEIN 1; PROTEIN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SILENCING; INJECTION; MOUSE; NERVE FIBER DEGENERATION; NONHUMAN; OPA1 GENE; OPTIC NERVE DISEASE; VISUAL STIMULATION;

EID: 33750560442     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(06)70107-3     Document Type: Article

References (18)

1. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye, 2004;38:114-60.
2. Votruba M. Molecular genetic basis of primary inherited optic neuropathies. Eye, 2004;18:1126-32.
3. Delettre C, Lenaers G, Griffoin J-M, Gigarel N, Lorenzo C, Belenguer P, et al. Nuclear gene OPA1 encoding a mitochondrial dynamin-related protein is mutated in dominant optic atrophy. Nature Genet, 2000;26:207-10.
4. Alexander C, Votruba M, Pesch UE, Thiselton D, Mayer S, Moore A, et al. OPA1 encoding a dynamin-related GTPase is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet, 2000;26:211-5.
5. Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, et al. The human dynamin-related OPA1 is anchored to the mitochondrial inner membrane facing inter-membrane space. FEBS, 2002;523:171-6.
6. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand, 1959;37(suppl 54):1146.
7. Kjer P, Jensen OA, Klinken L. Histopathology of eye optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol, 1983;61:300-12.
8. Lewis DL, Hagstrom JE, Loomis AG, Wolff JA, Herweijer H. Efficient delivery for inhibition of gene expression in post-natal mice. Nat Genet, 2002;32:107-8.
9. Kamei S, Chen-Kuo-Chang M, Cazevieille C, Laeners G, Olichon A, Belenguer P, et al. Expression of the Opal mitochondrial protein in rat retinal ganglion cells; its down regulation causes aggregation of the mitochondrial network. Invest Ophthalmol Vis Sci, 2005;46:4288-94.
10. Krichevsky AM, Kosik KS. RNAi functions in cultured mammalian neurons. Proc Natl Acad Sci USA, 2002;99:11926-9.
11. Smith RS. Systematic evaluation of the mouse eye: anatomy, pathology and biomethods. Boca Raton, Florida: CRC Press LLC; 1974. p. 35-37.
12. Brigell MB. The visual evoked potential. In: Fishman GA, Birch DG, Holder GE, Brigell MG, eds. Electrophysiologic testing. San Fransisco: The Foundation of the American Academy of Ophthalmology; 2001;237-79.
13. Mori K, Duh E, Gehlbach P, Ando A, Takahashi K, Pearlman J, et al. Pigment epithelium-derived factor inhibits retinal and choroidal neovascularization. J Cell Physiol, 2001;188:253-63.
14. Hamel CP, Delettre C, Lenaers G. Les neuropathies optiques dominantes. Dans «Œil et Génétique». Kaplan J et Dufier J-L, Masson, Paris, 2005, 640 pages.
15. Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity leading to cytochrome c release and apoptosis. J Biol Chem, 2003;278:7743-6.
16. Wang L, Dong J, Cull G, Fortune B, Cioffi GA. Varicosities of intraretinal ganglion cell axons in human and nonhuman primates. Invest Ophthalmol Vis Sci, 2003;44:2-9.
17. Bristow EA, Griffiths PG, Andrews RM, Johnson MA, Turnbull DM. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina. Br J Ophthalmol, 1999;83:231-5.
18. Marchbank NJ, Craig JF, Leek JP, et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet, 2002;39:e47.