C. Alexander, M. Votruba, U. Pesch, D. Thiselton, S. Mayer et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, Nature Genetics, vol.132, issue.2, pp.211-216, 2000.
DOI : 10.1146/annurev.bi.50.070181.002025

P. Amati-bonneau, S. Odent, C. Derrien, L. Pasquier, Y. Malthiery et al., The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene, American Journal of Ophthalmology, vol.136, issue.6, pp.1170-1171, 2003.
DOI : 10.1016/S0002-9394(03)00665-2

P. Amati-bonneau, A. Guichet, A. Olichon, A. Chevrollier, F. Viala et al., OPA1 R445H mutation in optic atrophy associated with sensorineural deafness, Annals of Neurology, vol.36, issue.6, pp.958-63, 2005.
DOI : 10.1002/ana.20681

R. Andrews, I. Kubacka, P. Chinnery, R. Lightowlers, D. Turnbull et al., Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat Genet, vol.23, p.147, 1999.

E. Bua, J. Johnson, A. Herbst, B. Delong, D. Mckenzie et al., Mitochondrial DNA???Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers, The American Journal of Human Genetics, vol.79, issue.3, pp.469-80, 2006.
DOI : 10.1086/507132

V. Carelli, F. Ross-cisneros, and A. Sadun, Mitochondrial dysfunction as a cause of optic neuropathies, Progress in Retinal and Eye Research, vol.23, issue.1, pp.53-89, 2004.
DOI : 10.1016/j.preteyeres.2003.10.003

H. Chen and D. Chan, Emerging functions of mammalian mitochondrial fusion and fission, Human Molecular Genetics, vol.14, issue.suppl_2, pp.283-292, 2005.
DOI : 10.1093/hmg/ddi270

H. Chen, J. Mccaffery, and D. Chan, Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum, Cell, vol.130, issue.3, pp.548-62, 2007.
DOI : 10.1016/j.cell.2007.06.026

A. Cohn, C. Toomes, C. Potter, K. Towns, A. Hewitt et al., Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations, American Journal of Ophthalmology, vol.143, issue.4, pp.656-62, 2007.
DOI : 10.1016/j.ajo.2006.12.038

A. Cossarizza, A. Riva, M. Pinti, S. Ammannato, P. Fedeli et al., Increased mitochondrial DNA content in peripheral blood lymphocytes from HIV-infected patients with lipodystrophy, Antiviral Therapy, vol.8, pp.51-58, 2003.

C. Delettre, G. Lenaers, J. Griffoin, N. Gigarel, C. Lorenzo et al., Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy, Nature Genetics, vol.303, issue.2, pp.207-217, 2000.
DOI : 10.1083/JCB.143.2.351

C. Delettre, G. Lenaers, L. Pelloquin, P. Belenguer, and C. Hamel, OPA1 (Kjer Type) Dominant Optic Atrophy: A Novel Mitochondrial Disease, Molecular Genetics and Metabolism, vol.75, issue.2, pp.97-107, 2002.
DOI : 10.1006/mgme.2001.3278

S. Dimauro and E. Schon, Mitochondrial Respiratory-Chain Diseases, New England Journal of Medicine, vol.348, issue.26, pp.2656-68, 2003.
DOI : 10.1056/NEJMra022567

URL : https://hal.archives-ouvertes.fr/hal-00537248

M. Ferre, P. Amati-bonneau, Y. Tourmen, Y. Malthiery, and P. Reynier, mutations, Human Mutation, vol.47, issue.5, pp.423-431, 2005.
DOI : 10.1002/humu.20161

URL : https://hal.archives-ouvertes.fr/inserm-00372261

C. Frezza, S. Cipolat, O. Martins-de-brito, M. Micaroni, G. Beznoussenko et al., OPA1 Controls Apoptotic Cristae Remodeling Independently from Mitochondrial Fusion, Cell, vol.126, issue.1, pp.177-89, 2006.
DOI : 10.1016/j.cell.2006.06.025

A. Ghelli, C. Zanna, A. Porcelli, A. Schapira, A. Martinuzzi et al., Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium, Journal of Biological Chemistry, vol.278, issue.6, pp.4145-50, 2003.
DOI : 10.1074/jbc.M210285200

E. González-vioque, A. Blazquez, D. Fernández-moreira, B. Bornstein, J. Bautista et al., Association of Novel POLGMutations and Multiple Mitochondrial DNA Deletions With Variable Clinical Phenotypes in a Spanish Population, Archives of Neurology, vol.63, issue.1, pp.107-118, 2006.
DOI : 10.1001/archneur.63.1.107

M. Herlan, F. Vogel, C. Bornhovd, W. Neupert, and A. Reichert, Processing of Mgm1 by the Rhomboid-type Protease Pcp1 Is Required for Maintenance of Mitochondrial Morphology and of Mitochondrial DNA, Journal of Biological Chemistry, vol.278, issue.30, pp.27781-27789, 2003.
DOI : 10.1074/jbc.M211311200

M. Hirano, Y. Nishigaki, and R. Marti, Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes, The Neurologist, vol.10, issue.1, pp.8-17, 2004.
DOI : 10.1097/01.nrl.0000106919.06469.04

S. Hoppins, L. Lackner, and J. Nunnari, The Machines that Divide and Fuse Mitochondria, Annual Review of Biochemistry, vol.76, issue.1, pp.33-34, 2007.
DOI : 10.1146/annurev.biochem.76.071905.090048

G. Hudson and P. Chinnery, Mitochondrial DNA polymerase-?? and human disease, Human Molecular Genetics, vol.15, issue.Review Issue 2, pp.244-52, 2006.
DOI : 10.1093/hmg/ddl233

G. Hudson, P. Amati-bonneau, E. Blakely, J. Stewart, L. He et al., Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance, Brain, vol.131, issue.2, 2007.
DOI : 10.1093/brain/awm272

L. Jaroszewski, W. Li, and A. Godzik, In search for more accurate alignments in the twilight zone, Protein Science, vol.221, issue.7, pp.1702-1715, 2002.
DOI : 10.1110/ps.4820102

W. Johnston, G. Karpati, S. Carpenter, D. Arnold, and E. Shoubridge, Late-onset mitochondrial myopathy, Annals of Neurology, vol.123, issue.1, pp.16-23, 1995.
DOI : 10.1002/ana.410370106

J. Kaukonen, J. Juselius, V. Tiranti, A. Kyttala, M. Zeviani et al., Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance, Science, vol.289, issue.5480, pp.782-787, 2000.
DOI : 10.1126/science.289.5480.782

J. Kim, J. Hwang, H. Ko, M. Seong, B. Park et al., Mitochondrial DNA content is decreased in autosomal dominant optic atrophy, Neurology, vol.64, issue.6, pp.966-72, 2005.
DOI : 10.1212/01.WNL.0000157282.76715.B1

P. Kjer, Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families, Acta Ophthalmol Scand, vol.37, pp.1-146, 1959.

M. Liguori, L. Russa, A. Manna, I. Andreoli, V. Caracciolo et al., A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation, Journal of Neurology, vol.253, issue.1
DOI : 10.1007/s00415-008-0571-x

R. Lodi, C. Tonon, M. Valentino, S. Iotti, V. Clementi et al., Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy, Annals of Neurology, vol.278, issue.5, pp.719-742, 2004.
DOI : 10.1002/ana.20278

H. Low and J. Lowe, A bacterial dynamin-like protein, Nature, vol.88, issue.7120, pp.766-775, 2006.
DOI : 10.1038/nature05312

F. Malka, A. Lombes, and M. Rojo, Organization, dynamics and transmission of mitochondrial DNA: Focus on vertebrate nucleoids, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1763, issue.5-6, pp.463-72, 2006.
DOI : 10.1016/j.bbamcr.2006.04.001

F. Meire, D. Laey, J. De-bie, S. Van-staey, M. Matton et al., Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO), Ophthalmic Paediatrics and Genetics, vol.201, issue.1-2, pp.91-98, 1985.
DOI : 10.3109/13816818509007861

C. Moraes, S. Dimauro, M. Zeviani, A. Lombes, S. Shanske et al., Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome, New England Journal of Medicine, vol.320, issue.20, pp.1293-1302, 1989.
DOI : 10.1056/NEJM198905183202001

M. Nakamura, J. Lin, S. Ueno, R. Asaoka, T. Hirai et al., Novel Mutations in the OPA1 Gene and Associated Clinical Features in Japanese Patients with Optic Atrophy, Ophthalmology, vol.113, issue.3, pp.483-491, 2006.
DOI : 10.1016/j.ophtha.2005.10.054

A. Niemann, M. Ruegg, L. Padula, V. Schenone, A. Suter et al., Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network, The Journal of Cell Biology, vol.41, issue.7, pp.1067-78, 2005.
DOI : 10.1038/ng1341

Y. Nishigaki, R. Marti, and M. Hirano, ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy, Human Molecular Genetics, vol.13, issue.1, pp.91-101, 2004.
DOI : 10.1093/hmg/ddh010

I. Nishino, A. Spinazzola, and M. Hirano, Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder, Science, vol.283, issue.5402, pp.689-92, 1999.
DOI : 10.1126/science.283.5402.689

A. Olichon, L. Baricault, N. Gas, E. Guillou, A. Valette et al., Loss of OPA1 Perturbates the Mitochondrial Inner Membrane Structure and Integrity, Leading to Cytochrome c Release and Apoptosis, Journal of Biological Chemistry, vol.278, issue.10, pp.7743-7749, 2003.
DOI : 10.1074/jbc.C200677200

A. Olichon, E. Guillou, C. Delettre, T. Landes, L. Arnauné-pelloquin et al., Mitochondrial dynamics and disease, OPA1, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1763, issue.5-6, pp.500-509, 2006.
DOI : 10.1016/j.bbamcr.2006.04.003

M. Payne, Z. Yang, B. Katz, J. Warner, C. Weight et al., Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1, American Journal of Ophthalmology, vol.138, issue.5, pp.749-55, 2004.
DOI : 10.1016/j.ajo.2004.06.011

U. Pesch, B. Leo-kottler, S. Mayer, B. Jurklies, U. Kellner et al., OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance, Human Molecular Genetics, vol.10, issue.13, pp.1359-68, 2001.
DOI : 10.1093/hmg/10.13.1359

G. Praefcke and H. Mcmahon, The dynamin superfamily: universal membrane tubulation and fission molecules?, Nature Reviews Molecular Cell Biology, vol.5, issue.2, pp.133-180, 2004.
DOI : 10.1038/nrm1313

S. Shimizu, N. Mori, M. Kishi, H. Sugata, A. Tsuda et al., A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy, American Journal of Ophthalmology, vol.135, issue.2
DOI : 10.1016/S0002-9394(02)01929-3

J. Spelbrink, F. Li, V. Tiranti, K. Nikali, Q. Yuan et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria, Nature Genetics, vol.28, issue.3, pp.223-254, 2001.
DOI : 10.1038/90058

R. Staden, K. Beal, and J. Bonfield, The Staden package, Methods Mol Biol, vol.132, pp.115-145, 1998.

R. Treft, G. Sanborn, J. Carey, M. Swartz, D. Crisp et al., Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy, Ophthalmology, vol.91, issue.8, pp.908-923, 1984.
DOI : 10.1016/S0161-6420(84)34214-2

G. Van-goethem, B. Dermaut, A. Lofgren, J. Martin, and C. Van-broeckhoven, Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions, Nature Genetics, vol.28, issue.3, pp.211-213, 2001.
DOI : 10.1038/90034

H. Waterham, J. Koster, C. Van-roermund, P. Mooyer, R. Wanders et al., A Lethal Defect of Mitochondrial and Peroxisomal Fission, New England Journal of Medicine, vol.356, issue.17, pp.1736-1777, 2007.
DOI : 10.1056/NEJMoa064436

M. Zeviani, S. Servidei, C. Gellera, E. Bertini, S. Dimauro et al., An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region, Nature, vol.339, issue.6222, pp.309-320, 1989.
DOI : 10.1038/339309a0