Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

ABSTRACT: In humans, complex I of the respiratory chain is composed of seven mitochondrial DNA (mtDNA)-encoded and 38 nuclear-encoded subunits that assemble together in a process that is poorly defined. To date, only two complex I assembly factors have been identified and how each functions is not clear. Here, we show that the human complex I assembly factor CIA30 (complex I intermediate associated protein) associates with newly translated mtDNA-encoded complex I subunits at early stages in their assembly before dissociating at a later stage. Using antibodies we identified a CIA30-deficient patient who presented with cardioencephalomyopathy and reduced levels and activity of complex I. Genetic analysis revealed the patient had mutations in both alleles of the NDUFAF1 gene that encodes CIA30. Complex

SUBMITTER: Dunning CJ 

PROVIDER: S-EPMC1914096 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature