This report describes mitochondrial complex I deficiency, NDUFAF1-related. The human gene implicated in this subtype of complex I deficiency is NDUFAF1, a nuclear gene that encodes a protein required for assembly of mitochondrial complex I. There is a single fly ortholog, Dmel\CIA30, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated.
The human NDUFAF1 gene has not been introduced into flies.
Animals homozygous for loss-of-function alleles of Dmel\CIA30 are smaller than wild-type and die during the pupal stage; rare escapers show severe degeneration of myofibrils and mitochondria in thoracic flight muscles.
[updated Aug. 2016 by FlyBase; FBrf0222196]
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]
[MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11](https://omim.org/entry/618234)
[NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1; NDUFAF1](https://omim.org/entry/606934)
This form of mitochondrial complex I deficiency is caused by homozygous or compound heterozygous mutation in the nuclear-encoded gene NDUFS1. [from MIM:606934; 2016.08.24]
NDUFAF1 ( NADH:ubiquinone oxidoreductase complex assembly factor 1) encodes one of multiple proteins transiently associated with a complex I assembly intermediate and is required for correct assembly of mitochondrial complex I. [from MIM:606934; 2016.08.24]
One to one (1 human to 1 Drosophila).
High-scoring ortholog of human NDUFAF1 (1 Drosophila to 1 human; reciprocal best hit). Dmel\CIA30 shares 40% identity and 63% similarity with the human gene.
