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General Information
Name
mitochondrial complex I deficiency, nuclear type 22
FlyBase ID
FBhh0000107
Overview

This report describes mitochondrial complex I deficiency, nuclear type 22 (MC1DN22); MC1DN22 exhibits autosomal recessive inheritance. The human gene implicated in this disease subtype is NDUFA10, a nuclear gene that encodes an accessory subunit of NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the mitochondrial electron transport chain. There is a single fly ortholog, Dmel\ND-42, for which RNAi-targeting constructs and an allele caused by insertional mutagenesis have been generated.

The human NDUFA10 gene has not been introduced into flies.

Reduced expression of Dmel\ND-42 in the developing eye, effected by RNAi, results in progressive neuroanatomy defects, specifically in the photoreceptors. Genetic interactions have been assessed using GAL4-UAS expression constructs. Physical interactions for the ND-42 protein have been described; see below and in the ND-42 gene report.

[updated Apr. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: mitochondrial complex I deficiency, nuclear type
Symptoms and phenotype

Mitochondrial complex I deficiency causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, and liver disease. [from OMIM:252010; 2016.08.12]

Specific Disease Summary: mitochondrial complex I deficiency, nuclear type 22
OMIM report

[MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22](https://omim.org/entry/618243)

Human gene(s) implicated

[NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A10; NDUFA10](https://omim.org/entry/603835)

Symptoms and phenotype
Genetics

Mitochondrial complex I deficiency nuclear type 22 (MC1DN22) is caused by homozygous or compound heterozygous mutation in the nuclear-encoded NDUFA10 gene. [from OMIM:618243; 2019.04.24]

Cellular phenotype and pathology
Molecular information

DUFAF10 encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain of mitochondria. [from OMIM:603835; 2016.01.06]

External links
Disease synonyms
MC1DN22
Leigh syndrome, NDUFA10-related
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 (reciprocal best hit).

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      NADH dehydrogenase (ubiquinone) 42 kDa subunit (ND-42) encodes an ortholog of human NDUFA10, a subunit of complex I of the mitochondrial electron transport chain ( NADH:ubiquinone reductase). ND-42 acts genetically as a suppressor of some Pink1 phenotypes. [Date last reviewed: 2019-09-26]
      Molecular function (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human NDUFA10 (1 Drosophila to 1 human). Dmel\ND-42 shares 35% identity and 57% similarity with human NDUFA10.

      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 (3 groups)
      RNA-protein
      Interacting group
      Assay
      References
      anti bait coimmunoprecipitation, primer specific pcr
      protein-protein
      Interacting group
      Assay
      References
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot, two hybrid
      Alleles Reported to Model Human Disease (Disease Ontology) (6 alleles)
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 5 )
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      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
      References (7)