Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales Dynamin-ähnliches 120kDa Protein

Mutationen des OPA1-Gens, welches ein mitochandriales protein kodiert sind mit autosomal rezessiven und dominanten Augenerkrankungen wie Atrophie des Nervus opticus und Glaukom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hereditäres Glaucom
Axenfeld-Rieger Anomalie
FOXC1
Modifikatoren der Glaukomausprägung
COL15A1
COL18A1
Nagel-Patella-Syndrom
LMX1B
OPA1
Weitwinkelglaukom 1
Weitwinkelglaukom 1A
MYOC
Weitwinkelglaukom 1B
Weitwinkelglaukom 1C
Weitwinkelglaukom 1D
Weitwinkelglaukom 1E
OPTN
Weitwinkelglaukom 1F
ASB10
Weitwinkelglaukom 1G
WDR36
Weitwinkelglaukom 1H
Weitwinkelglaukom 1I
Weitwinkelglaukom 1J
Weitwinkelglaukom 1K
Weitwinkelglaukom 1L
MYOC
Weitwinkelglaukom 1M
Weitwinkelglaukom 1N
Weitwinkelglaukom 1O
NTF4
Weitwinkelglaukom 1P
Weitwinkelglaukom 3
Weitwinkelglaukom 3A
CYP1B1
Weitwinkelglaukom 3B
Weitwinkelglaukom 3C
Weitwinkelglaukom 3D
LTBP2

Referenzen:

1.

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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2.

Meire F et. al. (1985) Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

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3.

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

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4.

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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5.

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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6.

Pelloquin L et. al. (1998) Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance.

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7.

Johnston RL et. al. (1999) Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.

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8.

Pelloquin L et. al. (1999) Fission yeast Msp1 is a mitochondrial dynamin-related protein.

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9.

Delettre C et. al. (2000) Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

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10.

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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11.

Pesch UE et. al. (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

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12.

Toomes C et. al. (2001) Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

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13.

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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14.

Delettre C et. al. (2001) Mutation spectrum and splicing variants in the OPA1 gene.

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15.

Aung T et. al. (2002) A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

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16.

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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17.

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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18.

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

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19.

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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20.

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

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21.

Cipolat S et. al. (2004) OPA1 requires mitofusin 1 to promote mitochondrial fusion.

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22.

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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23.

Li C et. al. (2005) Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

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24.

Amati-Bonneau P et. al. (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

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25.

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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26.

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

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27.

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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28.

Mabuchi F et. al. (2007) The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.

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29.

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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30.

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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31.

Schimpf S et. al. (2008) Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

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32.

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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33.

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

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34.

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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35.

Merkwirth C et. al. (2008) Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria.

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36.

Stewart JD et. al. (2008) OPA1 in multiple mitochondrial DNA deletion disorders.

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37.

Fuhrmann N et. al. (2009) Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

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38.

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

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39.

Yu-Wai-Man P et. al. (2010) Multi-system neurological disease is common in patients with OPA1 mutations.

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40.

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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41.

Barboni P et. al. (2010) OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

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42.

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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43.

Elachouri G et. al. (2011) OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

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44.

Marelli C et. al. (2011) Heterozygous OPA1 mutations in Behr syndrome.

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45.

Schaaf CP et. al. (2011) Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

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46.

Kasahara A et. al. (2013) Mitochondrial fusion directs cardiomyocyte differentiation via calcineurin and Notch signaling.

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47.

Bonneau D et. al. (2014) Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

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48.

Carelli V et. al. (2015) 'Behr syndrome' with OPA1 compound heterozygote mutations.

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49.

Spiegel R et. al. (2016) Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

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