title: Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans.
abstract: The biogenesis of mitochondrial NADH:ubiquinone oxidoreductase (complex I) requires several assembly chaperones. These so-called complex I assembly factors have emerged as a new class of human disease genes. Here, we identified putative assembly factor homologues in Caenorhabditis elegans. We demonstrate that two candidates (C50B8.3/NUAF-1, homologue of NDUFAF1 and R07H5.3/NUAF-3, homologue of NDUFAF3) clearly affect complex I function. Assembly factor deficient worms were shorter, showed a diminished brood size and displayed reduced fat content. Our results suggest that mitochondrial complex I biogenesis is evolutionarily conserved. Moreover, Caenorhabditis elegans appears to be a promising model organism to study assembly factor related human diseases.
authors.affiliation: Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Daniela
authors.initials: D
authors.lastname: van den Ecker
authors.forename: Mariël A
authors.initials: MA
authors.lastname: van den Brand
authors.forename: Gerke
authors.initials: G
authors.lastname: Ariaans
authors.forename: Michael
authors.initials: M
authors.lastname: Hoffmann
authors.forename: Olaf
authors.initials: O
authors.lastname: Bossinger
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Leo G
authors.initials: LG
authors.lastname: Nijtmans
authors.forename: Felix
authors.initials: F
authors.lastname: Distelmaier
mesh_terms: D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics / Q000378:metabolism*; D029742:Caenorhabditis elegans Proteins / Q000235:genetics / Q000378:metabolism*; D042967:Electron Transport Complex I / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D024101:Mitochondrial Proteins / Q000235:genetics / Q000378:metabolism*; D009245:NADH Dehydrogenase / Q000235:genetics / Q000378:metabolism; D001678:Organelle Biogenesis; D017386:Sequence Homology, Amino Acid
chemical_list: D029742:Caenorhabditis elegans Proteins; D024101:Mitochondrial Proteins; C541710:NDUFAF3 protein, human; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C506342:NDUFAF1 protein, human