FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: mitochondrial respiratory complex disease, mitochondrial types
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General Information
Name
mitochondrial respiratory complex disease, mitochondrial types
FlyBase ID
FBhh0001567
Disease Ontology Term
Parent Disease
OMIM
Overview

A subset of the proteins that make up the mitochondrial respiratory chain are encoded on the mitochondrial genome. Disease variants in a number of these proteins have been identified. This is an umbrella report that includes models of mitochondrial respiratory complex disease caused by variants in mtDNA that have been modeled in flies; all five complexes are covered in this one report.

[updated Mar. 2024 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: mitochondrial respiratory complex disease, mitochondrial types
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Some mitochondrial disorders affect a single organ (eye or ear, for example), but most involve multiple organ systems and often present with prominent neurologic and myopathic features. [Gene Reviews, Primary Mitochondrial Disorders Overview]

(FlyBase Curators, 2013-)
Genetics

Individuals with mitochondrial disorders resulting from mtDNA pathogenic variants may harbor a mixture of mutated and wild type mtDNA within each cell (heteroplasmy). [Gene Reviews, Primary Mitochondrial Disorders Overview]

(FlyBase Curators, 2013-)
Cellular phenotype and pathology

Single-cell studies have shown that the proportion of mtDNA pathogenic variants must exceed a critical threshold level before a cell expresses a biochemical abnormality of the mitochondrial respiratory chain (the threshold effect). [Gene Reviews, Primary Mitochondrial Disorders Overview]

(FlyBase Curators, 2013-)
Molecular information

The percentage level of mtDNA pathogenic variants may vary among individuals within the same family, and also among organs and tissues within an individual. This contributes to the varied clinical phenotype seen in individuals with disorders caused by mtDNA pathogenic variants. [Gene Reviews, Primary Mitochondrial Disorders Overview]

(FlyBase Curators, 2013-)
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        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
        Related mammalian, viral, bacterial, or synthetic 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
        References (1)