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]
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 22; MC1DN22](https://omim.org/entry/618243)
[NADH-UBIQUINONE OXIDOREDUCTASE SUBUNIT A10; NDUFA10](https://omim.org/entry/603835)
Mitochondrial complex I deficiency nuclear type 22 (MC1DN22) is caused by homozygous or compound heterozygous mutation in the nuclear-encoded NDUFA10 gene. [from MIM:618243; 2019.04.24]
DUFAF10 encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain of mitochondria. [from MIM:603835; 2016.01.06]
One to one: 1 human to 1 Drosophila (reciprocal best hit).
High-scoring ortholog of human NDUFA10 (1 Drosophila to 1 human). Dmel\ND-42 shares 35% identity and 57% similarity with human NDUFA10.
