FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Leigh syndrome, MT-ATP6-related
Open Close
General Information
Name
Leigh syndrome, MT-ATP6-related
FlyBase ID
FBhh0000387
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes Leigh syndrome, MT-ATP6-related, one of several diseases associated with the human mitochondrially-encoded gene MT-ATP6. See the human disease model report for mitochondrial complex V disorders, MT-ATP6-related (FBhh0000376) for information on experimental results using Drosophila models of this and related diseases. See MIM:516060 for variants of MT-ATP6 associated with Leigh syndrome.

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Leigh syndrome
Symptoms and phenotype

Leigh syndrome is an early-onset progressive neurodegenerative disorder; clinical symptoms depend on which areas of the central nervous system are involved. [from MIM:256000; 2016.01.06]

(OMIM, 2013-)

The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. [from NORD, Leigh Syndrome; 2016.08.12]

(FlyBase Curators, 2013-)
Specific Disease Summary: Leigh syndrome, MT-ATP6-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Leigh syndrome due to complex V deficiency
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MT-ATP6; mitochondrially encoded ATP synthase membrane subunit 6
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mt:ATPase6
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila; the additional orthologous human gene is MT-ATP8.

    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 (4)