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MeSH Review:

Optic Atrophy, Autosomal Dominant

Carelli, V. et al., Züchner, S. et al., Eiberg, H. et al., Delettre, C. et al., Olichon, A. et al., et al.

Züchner, De Jonghe, Jordanova, Claeys, Guergueltcheva, Cherninkova, Hamilton, Van Stavern, Krajewski, Stajich, Tournev, Verhoeven, Langerhorst, de Visser, Baas, Bird, Timmerman, Shy, Vance, Howell, Carelli, Ross-Cisneros, Sadun, Delettre, Lenaers, Pelloquin, Belenguer, Hamel, Amati-Bonneau, Odent, Derrien, Pasquier, Malthiéry, Reynier, Bonneau, Votruba, Leary, Losseff, Bhattacharya, Moore, Miller, Moseley, Eiberg, Hansen, Kjer, Hansen, Pedersen, Bille, Rosenberg, Tranebjaerg,

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Disease relevance of Optic Atrophy, Autosomal Dominant

It is intriguing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosphorylation components as seen in Leber's hereditary optic atrophy [1].
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease [2].
In addition to LHON, there are a large number of other optic nerve degenerative disorders including autosomal dominant optic atrophy, the toxic/nutritional optic neuropathies and glaucoma [3].
This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing [4].

High impact information on Optic Atrophy, Autosomal Dominant

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy [5].
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [6].
It is unclear whether OPA1, a dynamin-related protein of the inner membrane mutated in autosomal dominant optic atrophy, participates in fusion or fission [7].
The maximum lod score obtained was 2.0 at theta = .18 for linkage between the Kidd locus and dominant optic atrophy [8].
Moreover, the recent identification of mutations in the nuclear gene OPA1 as the causative factor in dominant optic atrophy (DOA, Kjer's type) brought the unexpected finding that this gene encodes for a mitochondrial protein, suggesting that DOA and LHON may be linked by similar pathogenesis [9].

Chemical compound and disease context of Optic Atrophy, Autosomal Dominant

Measurements of the intraorbital optic nerve were made using high-resolution coronal MRI in 10 adults with autosomal dominant optic atrophy [10].
This article discusses the clinical features and known genetic information regarding Leber's hereditary optic neuropathy, dominant optic atrophy, recessive optic atrophy, and Wolfram syndrome [11].

Biological context of Optic Atrophy, Autosomal Dominant

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable reduction of visual acuity with an insidious onset in the first six years of life [12].
In addition, we screened a cohort of 19 unrelated patients with dominant optic atrophy by direct sequencing of the 30 OPA1 exons (including exons 4b and 5b) and found mutations in 17 (89%) of them of which 8 were novel [13].
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy [14].
CONCLUSION: The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed [15].
The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA) [16].

Anatomical context of Optic Atrophy, Autosomal Dominant

OPA1 haplo-insufficiency is responsible for the most common form of autosomal dominant optic atrophy (ADOA, MIM165500), a neuropathy resulting from degeneration of the retinal ganglion cells and optic nerve atrophy [17].

Gene context of Optic Atrophy, Autosomal Dominant

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract [18].
Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1) [19].
We screened for mutations in HRY in 36 patients from 18 pedigrees with dominant optic atrophy and a group of normal control individuals [20].
A new member of the dynamin GTPase family (OPA1) was recently identified in humans and shown to be mutated in patients with dominant optic atrophy [21].
PURPOSE: Mutations in the mitochondrial dynamin-related GTPase OPA1 cause autosomal dominant optic atrophy (ADOA), but the pathophysiology of this disease is unknown [22].

References

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Züchner, S., De Jonghe, P., Jordanova, A., Claeys, K.G., Guergueltcheva, V., Cherninkova, S., Hamilton, S.R., Van Stavern, G., Krajewski, K.M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C.T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J.M. Ann. Neurol. (2006) [Pubmed]
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Delettre, C., Lenaers, G., Pelloquin, L., Belenguer, P., Hamel, C.P. Mol. Genet. Metab. (2002) [Pubmed]
LHON and other optic nerve atrophies: the mitochondrial connection. Howell, N. Developments in ophthalmology. (2003) [Pubmed]
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. J. Med. Genet. (2006) [Pubmed]
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 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, C.P. Nat. Genet. (2000) [Pubmed]
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S., Wissinger, B. Nat. Genet. (2000) [Pubmed]
OPA1 requires mitofusin 1 to promote mitochondrial fusion. Cipolat, S., Martins de Brito, O., Dal Zilio, B., Scorrano, L. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
Linkage analysis in dominant optic atrophy. Kivlin, J.D., Lovrien, E.W., Bishop, D.T., Maumenee, I.H. Am. J. Hum. Genet. (1983) [Pubmed]
Mitochondrial dysfunction as a cause of optic neuropathies. Carelli, V., Ross-Cisneros, F.N., Sadun, A.A. Progress in retinal and eye research. (2004) [Pubmed]
MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Votruba, M., Leary, S., Losseff, N., Bhattacharya, S.S., Moore, A.T., Miller, D.H., Moseley, I.F. Neuroradiology. (2000) [Pubmed]
Update on hereditary optic neuropathy. Yen, M.T., Lam, B.L. Seminars in ophthalmology. (1999) [Pubmed]
No evidence of genetic heterogeneity in dominant optic atrophy. Bonneau, D., Souied, E., Gerber, S., Rozet, J.M., D'Haens, E., Journel, H., Plessis, G., Weissenbach, J., Munnich, A., Kaplan, J. J. Med. Genet. (1995) [Pubmed]
Mutation spectrum and splicing variants in the OPA1 gene. Delettre, C., Griffoin, J.M., Kaplan, J., Dollfus, H., Lorenz, B., Faivre, L., Lenaers, G., Belenguer, P., Hamel, C.P. Hum. Genet. (2001) [Pubmed]
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Han, J., Thompson-Lowrey, A.J., Reiss, A., Mayorov, V., Jia, H., Biousse, V., Newman, N.J., Brown, M.D. Genet. Med. (2006) [Pubmed]
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Amati-Bonneau, P., Odent, S., Derrien, C., Pasquier, L., Malthiéry, Y., Reynier, P., Bonneau, D. Am. J. Ophthalmol. (2003) [Pubmed]
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Baris, O., Delettre, C., Amati-Bonneau, P., Surget, M.O., Charlin, J.F., Catier, A., Derieux, L., Guyomard, J.L., Dollfus, H., Jonveaux, P., Ayuso, C., Maumenee, I., Lorenz, B., Mohammed, S., Tourmen, Y., Bonneau, D., Malthièry, Y., Hamel, C., Reynier, P. Hum. Mutat. (2003) [Pubmed]
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. Olichon, A., Baricault, L., Gas, N., Guillou, E., Valette, A., Belenguer, P., Lenaers, G. J. Biol. Chem. (2003) [Pubmed]
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M.C., Pelletier, J.B., Calvas, P., Dollfus, H., Belenguer, P., Malthièry, Y., Lenaers, G., Bonneau, D. J. Med. Genet. (2004) [Pubmed]
Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1). Stöhr, H., Klein, J., Gehrig, A., Koehler, M.R., Jurklies, B., Kellner, U., Leo-Kottler, B., Schmid, M., Weber, B.H. Hum. Genet. (1999) [Pubmed]
Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Votruba, M., Payne, A., Moore, A.T., Bhattacharya, S.S. Mamm. Genome (1998) [Pubmed]
Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. Misaka, T., Miyashita, T., Kubo, Y. J. Biol. Chem. (2002) [Pubmed]
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Kamei, S., Chen-Kuo-Chang, M., Cazevieille, C., Lenaers, G., Olichon, A., Bélenguer, P., Roussignol, G., Renard, N., Eybalin, M., Michelin, A., Delettre, C., Brabet, P., Hamel, C.P. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]

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