FB2025_01 , released February 20, 2025
Human Disease Model Report: mitochondrial complex I deficiency, nuclear type
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General Information
Name
mitochondrial complex I deficiency, nuclear type
FlyBase ID
FBhh0000364
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as mitochondrial complex I deficiency, nuclear type (MC1DN). MC1DN is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of MC1DN subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

Mitochondrial complex I ( NADH:ubiquinone oxidoreductase) is the first enzyme in the mitochondrial respiratory electron transport chain; it is the largest of the multimeric enzyme complexes of the mitochondrial respiratory chain. The mammalian enzyme consists of 14 core subunits, 7 of which are encoded in the mitochondrial DNA (not included in this phenotypic series), and 30 accessory or supernumerary subunits. In addition, there are numerous assembly factors required for the synthesis and processing of the various subunits, and correct assembly within the inner mitochondrial membrane.

A number of subtypes of mitochondrial complex I deficiency were previously described as subtypes of Leigh syndrome (MIM:256000; FBhh0000099).

[updated Apr. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: mitochondrial complex I deficiency, nuclear type
OMIM report
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 MIM:252010; 2016.08.12]

(OMIM, 2013-)
Genetics

Mitochondrial complex I deficiency can be caused by mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded; mutation in any of the component subunits can cause the disorder. [from MIM:252010; 2016.08.12]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The mammalian complex I consists of 14 core subunits, 7 of which are encoded in the mitochondrial DNA, and 30 accessory subunits. [HGNC, Gene Family: http://www.genenames.org/cgi-bin/genefamilies/set/640; 2016.08.16]

(FlyBase Curators, 2013-)
External links
Disease synonyms
complex 1 mitochondrial respiratory chain deficiency
isolated deficiency of mitochondrial respiratory chain complex I
mitochondrial complex I deficiency
mitochondrial NADH dehydrogenase component of complex I, deficiency of
NADH:Q(1) oxidoreductase deficiency
NADH:ubiquinone oxidoreductase deficiency
NADH-coenzyme Q reductase deficiency
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
        Genes involved in mitochondrial complex deficiency diseases
        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 (12)