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Center for Nephrology and Metabolic Disorders
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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.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary glaucoma
Axenfeld-Rieger Anomaly
FOXC1
Modifiers of clinical glaucoma presentation
COL15A1
COL18A1
Nail-patella syndrome
LMX1B
OPA1
Open angle glaucoma 1
Open angle glaucoma 1A
MYOC
Open angle glaucoma 1B
Open angle glaucoma 1C
Open angle glaucoma 1D
Open angle glaucoma 1E
OPTN
Open angle glaucoma 1F
ASB10
Open angle glaucoma 1G
WDR36
Open angle glaucoma 1H
Open angle glaucoma 1I
Open angle glaucoma 1J
Open angle glaucoma 1K
Open angle glaucoma 1L
MYOC
Open angle glaucoma 1M
Open angle glaucoma 1N
Open angle glaucoma 1O
NTF4
Open angle glaucoma 1P
Open angle glaucoma 3
Open angle glaucoma 3A
CYP1B1
Open angle glaucoma 3B
Open angle glaucoma 3C
Open angle glaucoma 3D
LTBP2

References:

1.

Yu-Wai-Man P et al. (2010) OPA1 increases the risk of normal but not high tension glaucoma.

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2.

Frezza C et al. (2006) OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion.

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3.

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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9.

Amati-Bonneau P et al. (2008) OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

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10.

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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12.

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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29.

Treft RL et al. (1984) Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.

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30.

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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36.

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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38.

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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42.

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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43.

Shimizu S et al. (2003) A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

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44.

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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45.

Meeusen S et al. (2004) Mitochondrial fusion intermediates revealed in vitro.

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46.

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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49.

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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50.

Orphanet article

Orphanet ID 123996 external link
51.

NCBI article

NCBI 4976 external link
52.

OMIM.ORG article

Omim 605290 external link
53.

Wikipedia article

Wikipedia EN (Dynamin-like_120_kDa_protein) external link
Update: Aug. 14, 2020
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