Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies.
Mitochondrial disorders are a heterogeneous group of often multisystemic and early fatal diseases, which are amongst the most common inherited human diseases. These disorders are caused by defects in the oxidative phosphorylation (OXPHOS) system, which comprises five multisubunit enzyme complexes encoded by both the nuclear and the mitochondrial genomes. Due to the multitude of proteins and intricacy of the processes required for a properly functioning OXPHOS system, identifying the genetic defect that underlies an OXPHOS deficiency is not an easy task, especially in the case of combined OXPHOS defects. In the present communication we give an extensive overview of the proteins and processes (in)directly involved in mitochondrial translation and the biogenesis of the OXPHOS system and their roles in combined OXPHOS deficiencies. This knowledge is important for further research into the genetic causes, with the ultimate goal to effectively prevent and cure these complex and often devastating disorders.
Smits
Paulien
P
Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Smeitink
Jan
J
van den Heuvel
Lambert
L
D000818:Animals; D006801:Humans; D008928:Mitochondria / Q000378:metabolism / Q000502:physiology*; D028361:Mitochondrial Diseases / Q000378:metabolism*; D024101:Mitochondrial Proteins / Q000096:biosynthesis / Q000378:metabolism / Q000502:physiology*; D008954:Models, Biological; D010085:Oxidative Phosphorylation; D014176:Protein Biosynthesis
D024101:Mitochondrial Proteins
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