Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

Molecular Vision

Volumn 15, Issue , 2009, Pages 598-608

  Nochez, Yannick ^a   Arsene, Sophie ^a   Gueguen, Naig ^b,c   Chevrollier, Arnaud ^b,c   Ferré, Marc ^b,c,d   Guillet, Virginie ^c,d   Desquiret, Valérie ^b   Toutain, Annick ^a   Bonneau, Dominique ^b,c,d   Procaccio, Vincent ^b,c,d,e   Amati Bonneau, Patrizia ^b,c   Pisella, Pierre Jean ^a   Reynier, Pascal ^b,c,d  

^a UNIVERSITY HOSPITAL OF TOURS   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d Universite d'Angers   (France)

^e CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

METHYLPREDNISOLONE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; PROTEIN OPA1; UNCLASSIFIED DRUG;

ACUTE DISEASE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; FEMALE; GIANT CELL ARTERITIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; ISCHEMIC OPTIC NEUROPATHY; LEBER HEREDITARY OPTIC NEUROPATHY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN; VISUAL IMPAIRMENT;

DNA, MITOCHONDRIAL; ELECTRORETINOGRAPHY; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; OPTIC ATROPHY; SEQUENCE ANALYSIS, DNA; VISION, LOW;

EID: 65249166467     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Johnston PB, Gaster RN, Smith VC, Tripathi RC. A clinico-pathological study of autosomal dominant optic atrophy. Am J Ophthalmol 1979; 88:868-75.
2. Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology 1980; 87:245-51.
3. Lyle WM. Genetic risks. Waterloo, Ontario: Univ of Waterloo Press;1990.
4. Kjer B, Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 1996; 74:3-7.
5. Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 1998; 116:351-8.
6. Kjer P, Jensen OA, Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh) 1983; 61:300-12.
7. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. OPA1, encoding a dynamin related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26:211-5.
8. 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. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26:207-10.
9. Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 2001; 109:584-91.
10. Ferre M, Amati-Bonneau P, Tourmen Y, Malthiery Y, Reynier P. eOPA1: An online database for OPA1 mutations. Hum Mutat 2005; 25:423-8.
11. Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, Guillou E, Delettre C, Valette A, Hamel CP, Ducommun B, Lenaers G, Belenguer P. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 2002; 523:171-6.
12. Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, Lenaers G. 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.
13. 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. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 2006; 126:177-89.
14. Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008; 131:329-37.
15. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher0 R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2008; 131:338-51.
16. Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Fourteen novel OPA1 mutations in Autosomal Dominant Optic Atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003; 21:656.
17. Cornille K, Milea D, Amati-Bonneau P, Procaccio V, Zazoun L, Guillet V, El Achouri G, Delettre C, Gueguen N, Loiseau D, Muller A, Ferré M, Chevrollier A, Wallace DC, Bonneau D, Hamel C, Reynier P, Lenaers G. Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol 2008; 63:667-71.
18. 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, Malthièry Y, Bonneau D, Lenaers G, Reynier P. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005; 58:958-63.
19. Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet 2008; 17:3291-302.
20. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 2004; 138:749-55.
21. 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. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol 2004; 56:719-23.
22. Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 2008; 63:794-8.
23. Olichon A, Landes T, Arnauné-Pelloquin L, Emorine LJ, Mils V, Guichet A, Delettre C, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 2007; 211:423-30.
24. Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P. Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007; 61:315-23.
25. Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM, Munnich A. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228:35-51.
26. Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics. 2008
27. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23:147.
28. Votruba M, Moore AT, Bhattacharya SS. Clinical features, molecular genetics and pathophysiology of dominant optic atrophy. J Med Genet 1998; 35:793-800.
29. Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 2007; 143:656-62.
30. Misaka T, Miyashita T, Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. J Biol Chem 2002; 277:15834-42.
31. Chen AS, Kovach MJ, Herman K, Avakian A, Frank W, Forrester S, Lin JP, Kimonis V. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet Med 2000; 2:283-9.
32. Roggeveen HC, de Winter AP, Went LN. Studies in dominant optic atrophy. Ophthalmic Paediatr Genet 1985; 5:103-9.
33. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 2004; 138:749-55.
34. Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scand 2005; 83:337-46.
35. Han J, Thompson-Lowrey AJ, Reiss A, Mayorov V, Jia H, Biousse V, Newman NJ, Brown MD. OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Genet Med 2006; 8:217-25.
36. Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S. Farne' S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML. Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Biosci Rep 2007; 27:173-84.