This report describes mitochondrial complex IV deficiency, MT-CO1-related. The human gene implicated in this subtype of complex IV (COX) deficiency is MT-CO1, 1 of 3 mitochondrially encoded subunits of mitochondrial respiratory complex IV. There is a single fly ortholog, Dmel\mt:CoI, for which classical loss-of-function alleles and RNAi-targeting constructs have been generated.
The human MT-CO1 gene has not been introduced into flies. There are other several diseases that appear to be associated with defects in MT-CO1 (see MIM:516030, Allelic Variants section or table).
A missense mutation of Dmel\mt:CoI causes a wide range of defects, including growth retardation, neurodegeneration, muscular atrophy, male sterility, and reduced life span. Control of heteroplasmy vs. homoplasmy is facilitated using flies; tissue-specific expression or loss of function has been investigated using RNAi reagents. Genetic and physical interactions have been described; see below and in the gene report for mt:CoI.
[updated Aug. 2016 by FlyBase; FBrf0222196]
Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency) is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood. [from MIM:220110; 2016.08.12]
Some mitochondrial disorders affect a single organ (eye or ear, for example), but most involve multiple organ systems and often present with prominent neurologic and myopathic features. [Gene Reviews, Primary Mitochondrial Disorders Overview]
Cytochrome c oxidase subunit I is 1 of 3 mitochondrially encoded subunits ( MT:CO1 , MT:CO2 , MT:CO3 ) of mitochondral respiratory complex IV. [from MIM:516030; 2016.08.26]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human mitochondrial gene MT-CO1 (1 Drosophila to 1 human). Dmel\mt:CoI shares 88% identity and 76% similarity with human gene.
