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General Information
Name
optic atrophy syndromes, OPA1-related
FlyBase ID
FBhh0000642
Disease Ontology Term
Parent Disease
OMIM
Overview

The human gene OPA1 is implicated in multiple diseases with a broad range of neurologic phenotypes (OMIM:605290); common phenotypes include optic atrophy, other vision problems, hearing loss, and ataxia. The OPA1 gene encodes a protein that localizes to the inner mitochondrial membrane and that impacts mitochondrial fusion, apoptosis, reactive oxygen species production and ATP production. It has been postulated that retinal ganglion cells may be particularly vulnerable to mitochondrial dysfunction (Yu-Wai-Man et al., 2009; pubmed:19001017). There is a single orthologous gene in Drosophila, Dmel\Opa1, for which RNAi-targeting constructs and hypomorphic alleles caused by insertional mutagenesis have been generated.

The human OPA1 gene has not been introduced into flies.

Animals homozygous for loss-of-functions mutations of Dmel\Opa1 die in the larval stage. Heterozygotes exhibit visual abnormalities and defects in mitochondrial morphology in muscle. When targeted loss of function is effected by RNAi, fragmented mitochondria are frequently observed in the targeted tissue. Somatic clones, especially in the eye, have been used to further characterize loss-of-function phenotypes. Phenotypes of somatic clones and in heterozygous animals have been used to assess therapeutic candidates. Genetic and physical interactions of Dmel\Opa1 have been described; see below and in the Opa1 gene report.

[updated Oct. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: optic atrophy syndromes, OPA1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

The OPA1 gene encodes a protein that localizes to the inner mitochondrial membrane and regulates several important cellular processes including stability of the mitochondrial network, mitochondrial bioenergetic output, and sequestration of proapoptotic cytochrome c oxidase molecules within the mitochondrial cristae spaces (summary by Yu-Wai-Man et al., 2010; pubmed:). [from OMIM:605290; 2017.10.02]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one (1 human to 1 Drosophila).

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      Optic atrophy 1 (Opa1) encodes a dynamin-related GTPase that mediates fusion of the inner membrane of mitochondria. It usually works with the product of Marf to coordinately fuse both mitochondrial membranes. The product of Opa1 activity is regulated by proteolytic processing. [Date last reviewed: 2019-03-14]
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human OPA1 (1 Drosophila to 1 human). Dmel\Opa1 shares 52% identity and 69% similarity with the human gene.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (10 groups)
      protein-protein
      Interacting group
      Assay
      References
      cross-linking study, western blot
      anti bait coimmunoprecipitation, peptide massfingerprinting, western blot
      anti bait coimmunoprecipitation, peptide massfingerprinting
      anti bait coimmunoprecipitation, peptide massfingerprinting
      anti bait coimmunoprecipitation, peptide massfingerprinting, western blot
      anti bait coimmunoprecipitation, peptide massfingerprinting, western blot
      anti bait coimmunoprecipitation, peptide massfingerprinting
      anti tag coimmunoprecipitation, Identification by mass spectrometry
      anti bait coimmunoprecipitation, peptide massfingerprinting
      anti tag coimmunoprecipitation, anti tag western blot
      Alleles Reported to Model Human Disease (Disease Ontology) (6 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      piggyBac activity
      References (8)