| H01020 | |
| H番号 | H01020 |
| 名称 | 視神経萎縮症 |
| 概要 | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C40.B0 ICD-10: H47.2 MeSH: D029241 OMIM: 165500 125250 165300 610708 612989 616289 616732 617302 618977 165510 |
| 文献 | PMID:21112411 著者 Yu-Wai-Man P, Griffiths PG, Chinnery PF タイトル Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. 雑誌 Prog Retin Eye Res 30:81-114 (2011) DOI:10.1016/j.preteyeres.2010.11.002 PMID:19268652 著者 Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA タイトル Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. 雑誌 Biochim Biophys Acta 1787:518-28 (2009) DOI:10.1016/j.bbabio.2009.02.024 PMID:11017079 (OPA1) 著者 Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP タイトル Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 雑誌 Nat Genet 26:207-10 (2000) DOI:10.1038/79936 PMID:18222990 (OPA1 plus syndrome) 著者 Zeviani M タイトル OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. 雑誌 Brain 131:314-7 (2008) DOI:10.1093/brain/awm339 PMID:15342707 (OPA3) 著者 Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthiery Y, Lenaers G, Bonneau D タイトル OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 雑誌 J Med Genet 41:e110 (2004) DOI:10.1136/jmg.2003.016576 PMID:28969390 (OPA5) 著者 Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G タイトル Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. 雑誌 Brain 140:2586-2596 (2017) DOI:10.1093/brain/awx219 PMID:19327736 (OPA7) 著者 Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM タイトル TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. 雑誌 Am J Hum Genet 84:493-8 (2009) DOI:10.1016/j.ajhg.2009.03.003 PMID:25351951 (OPA9) 著者 Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C タイトル Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 雑誌 J Med Genet 51:834-8 (2014) DOI:10.1136/jmedgenet-2014-102532 PMID:26593267 (OPA10) 著者 Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G タイトル Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 雑誌 Am J Hum Genet 97:754-60 (2015) DOI:10.1016/j.ajhg.2015.09.012 PMID:27495975 (OPA11) 著者 Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM タイトル Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. 雑誌 Elife 5:e16078 (2016) DOI:10.7554/eLife.16078 PMID:32219868 (OPA12) 著者 Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schols L, Schule R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F タイトル ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 雑誌 Ann Neurol 88:18-32 (2020) DOI:10.1002/ana.25723 PMID:31550240 (OPA13) 著者 Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V タイトル SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. 雑誌 J Clin Invest 130:108-125 (2020) DOI:10.1172/JCI128514 |