{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:37:15Z","timestamp":1791250635585,"version":"4.1.0"},"reference-count":73,"publisher":"Portland Press Ltd.","issue":"1-3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2007,6,13]]},"abstract":"<jats:p>Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.<\/jats:p>","DOI":"10.1007\/s10540-007-9045-0","type":"journal-article","created":{"date-parts":[[2007,5,3]],"date-time":"2007-05-03T19:02:37Z","timestamp":1178218957000},"page":"173-184","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?"],"prefix":"10.1042","volume":"27","author":[{"given":"Valerio","family":"Carelli","sequence":"first","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"La Morgia","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Iommarini","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Carroccia","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Mattiazzi","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Sangiorgi","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Farne'","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Maresca","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Foscarini","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Lanzi","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Amadori","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzio","family":"Bellan","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lucia","family":"Valentino","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2007,6,13]]},"reference":[{"key":"9045_CR1","doi-asserted-by":"crossref","first-page":"6715","DOI":"10.1073\/pnas.77.11.6715","volume":"77","author":"RE Giles","year":"1980","unstructured":"Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 77:6715\u20136719","journal-title":"Proc Natl Acad Sci USA"},{"key":"9045_CR2","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","volume":"242","author":"DC Wallace","year":"1988","unstructured":"Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM Elsas LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy. Science 242:1427\u20131430","journal-title":"Science"},{"key":"9045_CR3","first-page":"266","volume":"4","author":"A Graefe Von","year":"1858","unstructured":"Von Graefe A (1858) Ein ungew\u0151hnlicher Fall von hereditarer Amaurose. Arch Ophthalmol 4:266\u2013268","journal-title":"Arch Ophthalmol"},{"key":"9045_CR4","first-page":"249","volume":"17","author":"T Leber","year":"1871","unstructured":"Leber T (1871) Uber hereditare und congenital-angelegte Sehnervenleiden. Arch Ophthalmol 17:249\u2013291","journal-title":"Arch Ophthalmol"},{"key":"9045_CR5","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P","volume":"48","author":"PF Chinnery","year":"2000","unstructured":"Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48:188\u2013193","journal-title":"Ann Neurol"},{"key":"9045_CR6","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","volume":"23","author":"V Carelli","year":"2004","unstructured":"Carelli V, Ross-Cisneros FN, Sadun AA (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23:53\u201389","journal-title":"Prog Retin Eye Res"},{"key":"9045_CR7","first-page":"1","volume":"37","author":"P Kjer","year":"1959","unstructured":"Kjer P (1959) Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand 37:1\u2013146","journal-title":"Acta Ophthalmol Scand"},{"key":"9045_CR8","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/79944","volume":"26","author":"C Alexander","year":"2000","unstructured":"Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to choromosome 3q28. Nat Genet 26:211\u2013215","journal-title":"Nat Genet"},{"key":"9045_CR9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","volume":"26","author":"C Delettre","year":"2000","unstructured":"Delettre C, Lenaers G, Griffoin J-M, 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 (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207\u2013210","journal-title":"Nat Genet"},{"key":"9045_CR10","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.bbamcr.2006.04.003","volume":"1763","author":"A Olichon","year":"2006","unstructured":"Olichon A, Guillou E, Delettre C, Landes T, Arnaune-Pelloquin L, Emorine LJ, Mils V, Daloyau M, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P (2006) Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta 1763:500\u2013509","journal-title":"Biochim Biophys Acta"},{"key":"9045_CR11","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.cell.2006.06.025","volume":"126","author":"C Frezza","year":"2006","unstructured":"Frezza C, Cipolat S, Martins de Brito O, Micaroni M, Beznoussenko GV, Rudka T, Bartoli D, Polishuck RS, Danial NN, De Strooper B, Scorrano L (2006) OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 126:177\u2013189","journal-title":"Cell"},{"key":"9045_CR12","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1001\/archopht.1983.01040020061011","volume":"101","author":"E Nikoskelainen","year":"1983","unstructured":"Nikoskelainen E, Hoyt WF, Nummelin K (1983) Ophthalmoscopic findings in Leber\u2019s hereditary optic neuropathy. II. The fundus findings in affected family members. Arch Ophthalmol 101:1059\u20131068","journal-title":"Arch Ophthalmol"},{"key":"9045_CR13","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.ophtha.2004.06.034","volume":"112","author":"P Barboni","year":"2005","unstructured":"Barboni P, Savini G, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F, Bianchi S, Longanesi L, Zanini M, de Vivo A, Carelli V (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in Leber\u2019s hereditary optic neuropathy. Ophthalmology 112:120\u2013126","journal-title":"Ophthalmology"},{"key":"9045_CR14","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ophtha.2004.09.033","volume":"112","author":"G Savini","year":"2005","unstructured":"Savini G, Barboni P, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F, Bianchi S, Longanesi L, Zanini M, Carelli V (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber\u2019s hereditary optic neuropathy mutations. Ophthalmology 112:127\u2013131","journal-title":"Ophthalmology"},{"key":"9045_CR15","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1201\/b14623-7","volume-title":"Mitochondrial medicine","author":"V Carelli","year":"2006","unstructured":"Carelli V, Barboni P, Sadun AA (2006) Chapter 5. Mitochondrial ophthalmology. In Di Mauro S, Hirano M, Schon E (eds) Mitochondrial medicine. Informa Healthcare Abingdon, Oxon, UK, 105\u2013142"},{"key":"9045_CR16","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1001\/archopht.1982.01030040575003","volume":"100","author":"E Nikoskelainen","year":"1982","unstructured":"Nikoskelainen E, Hoyt WF, Nummelin K (1982) Ophthalmoscopic findings in Leber\u2019s hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch Ophthalmol 100:1597\u20131602","journal-title":"Arch Ophthalmol"},{"key":"9045_CR17","first-page":"10","volume":"12","author":"EM Stone","year":"1992","unstructured":"Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC (1992) Visual recovery in patients with Leber\u2019s hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol 12:10\u201314","journal-title":"J Clin Neuroophthalmol"},{"key":"9045_CR18","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/mgme.2001.3278","volume":"75","author":"C Delettre","year":"2002","unstructured":"Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP (2002) OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 75:97\u2013107","journal-title":"Mol Genet Metab"},{"key":"9045_CR19","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/bjo.87.1.48","volume":"87","author":"M Votruba","year":"2003","unstructured":"Votruba M, Thiselton D, Bhattacharya SS (2003) Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol 87:48\u201353","journal-title":"Br J Ophthalmol"},{"key":"9045_CR20","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00417-002-0598-0","volume":"241","author":"Y Mashima","year":"2003","unstructured":"Mashima Y, Kimura I, Yamamoto Y, Ohde H, Ohtake Y, Tanino T, Tomita G, Oguchi Y (2003) Optic disc excavation in the atrophic stage of Leber\u2019s hereditary optic neuropathy: comparison with normal tension glaucoma. Graefe\u2019s Arch Clin Exp Ophthalmol 241:75\u201380","journal-title":"Graefe\u2019s Arch Clin Exp Ophthalmol"},{"key":"9045_CR21","first-page":"348","volume":"24","author":"RP Erickson","year":"1972","unstructured":"Erickson RP (1972) Leber\u2019s optic atrophy, a possible example of mitochondrial inheritance. Am J Hum Genet 24:348\u2013349","journal-title":"Am J Hum Genet"},{"key":"9045_CR22","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/124.1.209","volume":"124","author":"PF Chinnery","year":"2001","unstructured":"Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber\u2019s hereditary optic neuropathy. Brain 124:209\u2013218","journal-title":"Brain"},{"key":"9045_CR23","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ana.20236","volume":"56","author":"ML Valentino","year":"2004","unstructured":"Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, Carelli V (2004) The ND1 gene of complex I is a mutational hot spot for Leber\u2019s hereditary optic neuropathy. Ann Neurol 56:631\u2013641","journal-title":"Ann Neurol"},{"key":"9045_CR24","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1086\/515488","volume":"60","author":"MD Brown","year":"1997","unstructured":"Brown MD, Sun F, Wallace DC (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60:381\u2013387","journal-title":"Am J Hum Genet"},{"key":"9045_CR25","first-page":"1107","volume":"60","author":"A Torroni","year":"1997","unstructured":"Torroni A, Petrozzi M, D\u2019Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R (1997) 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 60:1107\u20131121","journal-title":"Am J Hum Genet"},{"key":"9045_CR26","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1093\/hmg\/6.11.1835","volume":"6","author":"S Hofmann","year":"1997","unstructured":"Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6:1835\u20131846","journal-title":"Hum Mol Genet"},{"key":"9045_CR27","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1086\/501236","volume":"78","author":"V Carelli","year":"2006","unstructured":"Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 78:564\u2013574","journal-title":"Am J Hum Genet"},{"key":"9045_CR28","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0168-9525(03)00072-6","volume":"19","author":"V Carelli","year":"2003","unstructured":"Carelli V, Giordano C, d\u2019Amati G (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 19:257\u2013262","journal-title":"Trends Genet"},{"key":"9045_CR29","doi-asserted-by":"crossref","first-page":"8198","DOI":"10.1073\/pnas.88.18.8198","volume":"88","author":"XD Bu","year":"1991","unstructured":"Bu XD, Rotter JI (1991) X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 88:8198\u20138202","journal-title":"Proc Natl Acad Sci USA"},{"key":"9045_CR30","unstructured":"Shankar SP, Carelli V, King TM, Taylor CM, Abdulkawy H, Braun TA, Daiger SP, Salomao SR, Sadun AA, Stone EM (2005) Linkage analysis of the X chromosome in a Brazilian family with Leber hereditary optic neuropathy (LHON). Invest Ophthalmol Vis Sci 46:E-abstract 663"},{"key":"9045_CR31","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1086\/498176","volume":"77","author":"G Hudson","year":"2005","unstructured":"Hudson G, Keers S, Man PY, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, Coo IF, Smeets HJ, Chinnery PF (2005) Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 77:1086\u20131091","journal-title":"Am J Hum Genet"},{"key":"9045_CR32","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1001\/archopht.117.6.805","volume":"117","author":"JB Kerrison","year":"1999","unstructured":"Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH (1999) Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2\u201312.3. Arch Ophthalmol 117:805\u2013810","journal-title":"Arch Ophthalmol"},{"key":"9045_CR33","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1136\/jmg.2004.025502","volume":"42","author":"F Barbet","year":"2005","unstructured":"Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM (2005) A third locus for dominant optic atrophy on chromosome 22q. J Med Genet 42:e1","journal-title":"J Med Genet"},{"key":"9045_CR34","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1076\/opge.23.1.29.2208","volume":"23","author":"S Ozden","year":"2002","unstructured":"Ozden S, Duzcan F, Wollnik B, Cetin OG, Sahiner T, Bayramoglu I, Yuksel-Apak M, Bagci H (2002) Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ophthalmic Genet 23:9\u201336","journal-title":"Ophthalmic Genet"},{"key":"9045_CR35","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/10.13.1359","volume":"10","author":"UEA Pesch","year":"2001","unstructured":"Pesch UEA, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10:1359\u20131368","journal-title":"Hum Mol Genet"},{"key":"9045_CR36","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajo.2004.06.011","volume":"138","author":"M Payne","year":"2004","unstructured":"Payne M, Yang Z, Katz BJ, Warner JEA, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K (2004) Dominant optic atrophy, sensorineural hearing loss, apoptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138:749\u2013755","journal-title":"Am J Ophthalmol"},{"key":"9045_CR37","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1002\/ana.20681","volume":"58","author":"P Amati-Bonneau","year":"2005","unstructured":"Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 58:958\u2013963","journal-title":"Ann Neurol"},{"key":"9045_CR38","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.bbabio.2004.05.009","volume":"1658","author":"V Carelli","year":"2004","unstructured":"Carelli V, Rugolo M, Sgarbi G, Ghelli A, Zanna C, Baracca A, Lenaz G, Napoli E, Martinuzzi A, Solaini G (2004) Bioenergetics shapes cellular death pathways in Leber\u2019s hereditary optic neuropathy: a model of mitochondrial neurodegeneration. Biochim Biophys Acta 1658:172\u2013179","journal-title":"Biochim Biophys Acta"},{"key":"9045_CR39","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1001\/archneur.62.5.730","volume":"62","author":"A Baracca","year":"2005","unstructured":"Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AHV, Martinuzzi A, Carelli V (2005) Severe impairment of complex I-driven ATP synthesis in Leber\u2019s hereditary optic neuropathy cybrids. Arch Neurol 62:730\u2013736","journal-title":"Arch Neurol"},{"key":"9045_CR40","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.410420407","volume":"42","author":"R Lodi","year":"1997","unstructured":"Lodi R, Taylor DJ, Tabrizi SJ, Kumar S, Sweeney M, Wood NW, Styles P, Radda GK, Schapira AH (1997) In vivo skeletal muscle mitochondrial function in Leber\u2019s hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy. Ann Neurol 42:573\u2013579","journal-title":"Ann Neurol"},{"key":"9045_CR41","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1136\/jnnp.72.6.805","volume":"72","author":"R Lodi","year":"2002","unstructured":"Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, Pallotti F, Montagna P, Barbiroli B (2002) Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber\u2019s hereditary optic neuropathy. J Neurol Neurosurg Psychiatr 72:805\u2013807","journal-title":"J Neurol Neurosurg Psychiatr"},{"key":"9045_CR42","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1093\/hmg\/11.4.431","volume":"11","author":"A Wong","year":"2002","unstructured":"Wong A, Cavelier L, Collins-Schramm HE, Seldin MF, McGrogan M, Savontaus ML, Cortopassi GA (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 11:431\u2013438","journal-title":"Hum Mol Genet"},{"key":"9045_CR43","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.nbd.2006.10.014","volume":"25","author":"S Schoeler","year":"2007","unstructured":"Schoeler S, Winkler-Stuck K, Szibor R, Haroon MF, Gellerich FN, Chamaon K, Mawrin C, Kirches E (2007) Glutathione depletion in antioxidant defense of differentiated NT2-LHON cybrids. Neurobiol Dis 25:536\u2013544","journal-title":"Neurobiol Dis"},{"key":"9045_CR44","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1093\/brain\/awh258","volume":"127","author":"S Beretta","year":"2004","unstructured":"Beretta S, Mattavelli L, Sala G, Tremolizzo L, Schapira AH, Martinuzzi A, Carelli V, Ferrarese C (2004) Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Brain 127:2183\u20132192","journal-title":"Brain"},{"key":"9045_CR45","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.nbd.2006.07.016","volume":"24","author":"S Beretta","year":"2006","unstructured":"Beretta S, Wood JP, Derham B, Sala G, Tremolizzo L, Ferrarese C, Osborne NN (2006) Partial mitochondrial complex I inhibition induces oxidative damage and perturbs glutamate transport in primary retinal cultures. Relevance to Leber Hereditary Optic Neuropathy (LHON). Neurobiol Dis 24:308\u2013317","journal-title":"Neurobiol Dis"},{"key":"9045_CR46","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1111\/j.1742-4658.2004.04542.x","volume":"272","author":"M Floreani","year":"2005","unstructured":"Floreani M, Napoli E, Martinuzzi A, Pantano G, De Riva V, Trevisan R, Bisetto E, Valente L, Carelli V, Dabbeni-Sala F (2005) Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber\u2019s hereditary optic neuropathy. FEBS J 272:1124\u20131135","journal-title":"FEBS J"},{"key":"9045_CR47","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1074\/jbc.M210285200","volume":"278","author":"A Ghelli","year":"2003","unstructured":"Ghelli A, Zanna C, Porcelli AM, Schapira AH, Martinuzzi A, Carelli V, Rugolo M (2003) Leber\u2019s hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem 278:4145\u20134150","journal-title":"J Biol Chem"},{"key":"9045_CR48","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s10495-005-0742-5","volume":"10","author":"C Zanna","year":"2005","unstructured":"Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M (2005) Caspase-independent death of Leber\u2019s hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and endonuclease G. Apoptosis 10:997\u20131007","journal-title":"Apoptosis"},{"key":"9045_CR49","doi-asserted-by":"crossref","first-page":"5810","DOI":"10.1074\/jbc.M110119200","volume":"277","author":"SR Danielson","year":"2002","unstructured":"Danielson SR, Wong A, Carelli V, Martinuzzi A, Schapira AH, Cortopassi GA (2002) Cells bearing mutations causing Leber\u2019s hereditary optic neuropathy are sensitized to Fas-induced apoptosis. J Biol Chem 277:5810\u20135815","journal-title":"J Biol Chem"},{"key":"9045_CR50","doi-asserted-by":"crossref","first-page":"7743","DOI":"10.1074\/jbc.C200677200","volume":"278","author":"A Olichon","year":"2003","unstructured":"Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, Lenaers G (2003) Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 278:7743\u20137746","journal-title":"J Biol Chem"},{"key":"9045_CR51","doi-asserted-by":"crossref","first-page":"18792","DOI":"10.1074\/jbc.M400920200","volume":"279","author":"L Griparic","year":"2004","unstructured":"Griparic L, van der Wel NN, Orozco IJ, Peters PJ, van der Bliek AM (2004) Loss of the intermembrane space protein Mgm1\/OPA1 induces swelling and localized constrictions along the lengths of mitochondria. J Biol Chem 279:18792\u201318798","journal-title":"J Biol Chem"},{"key":"9045_CR52","doi-asserted-by":"crossref","first-page":"26185","DOI":"10.1074\/jbc.M503062200","volume":"280","author":"H Chen","year":"2005","unstructured":"Chen H, Chomyn A, Chan DC (2005) Disruption of fusion results in mitochondrial heterogeneity and dysfunction. J Biol Chem 280:26185\u201326192","journal-title":"J Biol Chem"},{"key":"9045_CR53","doi-asserted-by":"crossref","first-page":"5001","DOI":"10.1091\/mbc.e04-04-0294","volume":"15","author":"Y Lee","year":"2004","unstructured":"Lee Y, Jeong SY, Karbowski M, Smith CL, Youle RJ (2004) Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. Mol Biol Cell 15:5001\u20135011","journal-title":"Mol Biol Cell"},{"key":"9045_CR54","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/ana.20278","volume":"56","author":"R Lodi","year":"2004","unstructured":"Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V (2004) Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol 56:719\u2013723","journal-title":"Ann Neurol"},{"key":"9045_CR55","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1212\/01.WNL.0000157282.76715.B1","volume":"64","author":"JY Kim","year":"2005","unstructured":"Kim JY, Hwang JM, Ko HS, Seong MW, Park BJ, Park SS (2005) Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64:966\u2013972","journal-title":"Neurology"},{"key":"9045_CR56","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/jcp.20950","volume":"211","author":"A Olichon","year":"2007","unstructured":"Olichon A, Landes T, Arnaune-Pelloquin L, Emorine LJ, Mils V, Guichet A, Delettre C, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P (2007) Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 211:423\u2013430","journal-title":"J Cell Physiol"},{"key":"9045_CR57","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.cell.2006.06.021","volume":"126","author":"S Cipolat","year":"2006","unstructured":"Cipolat S, Rudka T, Hartmann D, Costa V, Serneels L, Craessaerts K, Metzger K, Frezza C, Annaert W, D\u2019Adamio L, Derks C, Dejaegere T, Pellegrini L, D\u2019Hooge R, Scorrano L, De Strooper B (2006) Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling. Cell 126:163\u2013175","journal-title":"Cell"},{"key":"9045_CR58","doi-asserted-by":"crossref","first-page":"C881","DOI":"10.1152\/ajpcell.00104.2005","volume":"289","author":"WJ Koopman","year":"2005","unstructured":"Koopman WJ, Visch HJ, Verkaart S, van den Heuvel LW, Smeitink JA, Willems PH (2005) Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency. Am J Physiol Cell Physiol 289:C881\u2013C890","journal-title":"Am J Physiol Cell Physiol"},{"key":"9045_CR59","doi-asserted-by":"crossref","first-page":"C1440","DOI":"10.1152\/ajpcell.00607.2004","volume":"288","author":"WJ Koopman","year":"2005","unstructured":"Koopman WJ, Verkaart S, Visch HJ, van der Westhuizen FH, Murphy MP, van den Heuvel LW, Smeitink JA, Willems PH (2005) Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth. Am J Physiol Cell Physiol 288:C1440\u2013C1450","journal-title":"Am J Physiol Cell Physiol"},{"key":"9045_CR60","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1242\/jcs.03381","volume":"120","author":"G Benard","year":"2007","unstructured":"Benard G, Bellance N, James D, Parrone P, Fernandez H, Letellier T, Rossignol R (2007) Mitochondrial bioenergetics and structural network organization. J Cell Sci 120:838\u2013848","journal-title":"J Cell Sci"},{"key":"9045_CR61","doi-asserted-by":"crossref","first-page":"37972","DOI":"10.1074\/jbc.M606059200","volume":"281","author":"S Duvezin-Caubet","year":"2006","unstructured":"Duvezin-Caubet S, Jagasia R, Wagener J, Hofmann S, Trifunovic A, Hansson A, Chomyn A, Bauer MF, Attardi G, Larsson NG, Neupert W, Reichert AS (2006) Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology. J Biol Chem 281:37972\u201337979","journal-title":"J Biol Chem"},{"key":"9045_CR62","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.ceb.2006.06.004","volume":"18","author":"H Chen","year":"2006","unstructured":"Chen H, Chan DC (2006) Critical dependence of neurons on mitochondrial dynamics. Curr Opin Cell Biol 18:453\u2013459","journal-title":"Curr Opin Cell Biol"},{"key":"9045_CR63","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.mehy.2004.10.021","volume":"65","author":"CY Yu Wai Man","year":"2005","unstructured":"Yu Wai Man CY, Chinnery PF, Griffiths PG (2005) Optic neuropathies--importance of spatial distribution of mitochondria as well as function. Med Hypotheses 65:1038\u20131042","journal-title":"Med Hypotheses"},{"key":"9045_CR64","doi-asserted-by":"crossref","first-page":"5411","DOI":"10.1242\/jcs.02745","volume":"118","author":"PJ Hollenbeck","year":"2005","unstructured":"Hollenbeck PJ, Saxton WM (2005) The axonal transport of mitochondria. J Cell Sci 118:5411\u20135419","journal-title":"J Cell Sci"},{"key":"9045_CR65","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.mito.2006.05.002","volume":"6","author":"G Cortopassi","year":"2006","unstructured":"Cortopassi G, Danielson S, Alemi M, Zhan SS, Tong W, Carelli V, Martinuzzi A, Marzuki S, Majamaa K, Wong A (2006) Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts. Mitochondrion 6:161\u2013175","journal-title":"Mitochondrion"},{"key":"9045_CR66","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jnnp.59.2.160","volume":"59","author":"EK Nikoskelainen","year":"1995","unstructured":"Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML (1995) Leber\u2019s \u201cplus\u201d: neurological abnormalities in patients with Leber\u2019s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 59:160\u2013164","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9045_CR67","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1093\/brain\/115.4.979","volume":"115","author":"AE Harding","year":"1992","unstructured":"Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, McDonald WI, Compston DA (1992) Occurrence of a multiple sclerosis-like illness in women who have a Leber\u2019s hereditary optic neuropathy mitochondrial DNA mutation. Brain 115:979\u2013989","journal-title":"Brain"},{"key":"9045_CR68","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","volume":"143","author":"AC Cohn","year":"2007","unstructured":"Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA (2007) Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 143:656\u2013662","journal-title":"Am J Ophthalmol"},{"key":"9045_CR69","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1097\/01.gim.0000214299.61930.c0","volume":"8","author":"J Han","year":"2006","unstructured":"Han J, Thompson-Lowrey AJ, Reiss A, Mayorov V, Jia H, Biousse V, Newman NJ, Brown MD (2006) OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Genet Med 8:217\u2013225","journal-title":"Genet Med"},{"key":"9045_CR70","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ana.10426","volume":"53","author":"X Qi","year":"2003","unstructured":"Qi X, Lewin AS, Hauswirth WW, Guy J (2003) Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 53:198\u2013205","journal-title":"Ann Neurol"},{"key":"9045_CR71","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1167\/iovs.02-0864","volume":"44","author":"X Qi","year":"2003","unstructured":"Qi X, Lewin AS, Hauswirth WW, Guy J (2003) Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest Ophthalmol Vis Sci 44:1088\u20131096","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9045_CR72","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1167\/iovs.06-0789","volume":"48","author":"X Qi","year":"2007","unstructured":"Qi X, Sun L, Lewin AS, Hauswirth WW, Guy J (2007) The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. Invest Ophthalmol Vis Sci 48:1\u201310","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9045_CR73","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/brain\/awm005","volume":"130","author":"MV Alavi","year":"2007","unstructured":"Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B (2007) A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain 130:1029\u20131042","journal-title":"Brain"}],"container-title":["Bioscience Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/27\/1-3\/173\/474469\/bsr0270173.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/27\/1-3\/173\/474469\/bsr0270173.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T18:11:43Z","timestamp":1637086303000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/bioscirep\/article\/27\/1-3\/173\/55778\/Mitochondrial-Optic-Neuropathies-How-Two-Genomes"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,13]]},"references-count":73,"journal-issue":{"issue":"1-3","published-print":{"date-parts":[[2007,6,13]]}},"URL":"https:\/\/doi.org\/10.1007\/s10540-007-9045-0","relation":{},"ISSN":["0144-8463","1573-4935"],"issn-type":[{"value":"0144-8463","type":"print"},{"value":"1573-4935","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,13]]}}}