Mitochondrial dynamin-like 120 kDa protein
Mutations in the OPA1 gene encoding a mitochondrial protein are associated with autosomal recessive and dominant visual impairments including optic atrophy and glaucoma.
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Related Diseases:
References:
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Yu-Wai-Man P et al. (2010) OPA1 increases the risk of normal but not high tension glaucoma.
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Frezza C et al. (2006) OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion.
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Olichon A et al. (2007) OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis.
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4. |
Mabuchi F et al. (2007) The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.
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5. |
Chen S et al. (2007) A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.
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6. |
Davies VJ et al. (2007) Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
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7. |
Schimpf S et al. (2008) Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
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8. |
Hudson G et al. (2008) Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
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Amati-Bonneau P et al. (2008) OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
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Ferraris S et al. (2008) Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
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11. |
Merkwirth C et al. (2008) Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria.
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Stewart JD et al. (2008) OPA1 in multiple mitochondrial DNA deletion disorders.
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13. |
Fuhrmann N et al. (2009) Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
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14. |
Jones BA et al. (1992) Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin.
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15. |
Yu-Wai-Man P et al. (2010) Multi-system neurological disease is common in patients with OPA1 mutations.
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16. |
Ban T et al. (2010) OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
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17. |
Barboni P et al. (2010) OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
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18. |
Yu-Wai-Man P et al. (2010) OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
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19. |
Elachouri G et al. (2011) OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
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20. |
Marelli C et al. (2011) Heterozygous OPA1 mutations in Behr syndrome.
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21. |
Schaaf CP et al. (2011) Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
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22. |
Kasahara A et al. (2013) Mitochondrial fusion directs cardiomyocyte differentiation via calcineurin and Notch signaling.
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23. |
Bonneau D et al. (2014) Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
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24. |
Carelli V et al. (2015) 'Behr syndrome' with OPA1 compound heterozygote mutations.
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25. |
Spiegel R et al. (2016) Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
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26. |
Amati-Bonneau P et al. (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
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27. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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28. |
Meire F et al. (1985) Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).
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Treft RL et al. (1984) Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.
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Votruba M et al. (1998) Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.
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31. |
Pelloquin L et al. (1998) Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance.
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32. |
Johnston RL et al. (1999) Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.
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33. |
Pelloquin L et al. (1999) Fission yeast Msp1 is a mitochondrial dynamin-related protein.
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34. |
Delettre C et al. (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
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35. |
Alexander C et al. (2000) OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
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Pesch UE et al. (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
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37. |
Toomes C et al. (2001) Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
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Thiselton DL et al. (2001) A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
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39. |
Delettre C et al. (2001) Mutation spectrum and splicing variants in the OPA1 gene.
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40. |
Aung T et al. (2002) A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
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41. |
Aung T et al. (2002) Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
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Olichon A et al. (2003) Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis.
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Shimizu S et al. (2003) A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
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Amati-Bonneau P et al. (2003) The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
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Meeusen S et al. (2004) Mitochondrial fusion intermediates revealed in vitro.
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Cipolat S et al. (2004) OPA1 requires mitofusin 1 to promote mitochondrial fusion.
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47. |
Payne M et al. (2004) Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
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48. |
Li C et al. (2005) Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.
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Schimpf S et al. (2006) Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
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Orphanet article
Orphanet ID 123996
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NCBI article
NCBI 4976
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OMIM.ORG article
Omim 605290
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Wikipedia article
Wikipedia EN (Dynamin-like_120_kDa_protein)
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Update: Aug. 14, 2020