title: Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease.
abstract: Most of the energy requirement for cell growth, differentiation, and development is met by the mitochondria in the form of ATP produced by the process of oxidative phosphorylation. Human mitochondrial DNA encodes a total of 13 proteins, all of which are essential for oxidative phosphorylation. The mRNAs for these proteins are translated on mitochondrial ribosomes. Recently, the genes for human mitochondrial ribosomal proteins (MRPs) have been identified. In this review, we summarize their refined chromosomal location. It is well known that mutations in the mitochondrial translation system, i.e., ribosomal RNA and transfer RNA cause various pathologies. In this review, we suggest possible associations between clinical conditions and MRPs based on coincidence of genetic map data and chromosomal location. These MRPs may be candidate genes for the clinical condition or may act as modifiers of existing known gene mutations (mt-tRNA, mt-rRNA, etc.).
authors.affiliation: Nemours Children's Clinic, Jacksonville, Florida 32207, USA.
authors.forename: James E
authors.initials: JE
authors.lastname: Sylvester
authors.forename: Nathan
authors.initials: N
authors.lastname: Fischel-Ghodsian
authors.forename: Edward B
authors.initials: EB
authors.lastname: Mougey
authors.forename: Thomas W
authors.initials: TW
authors.lastname: O'Brien
mesh_terms: D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000235:genetics*; D023061:Gene Order; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000628:therapy; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012269:Ribosomal Proteins