Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

Abstract

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.

Cited by papers we hold 6

• Differential dynamics of the mammalian mRNA and protein expression response to misfolding stress · 2016
  No notice
• Mitochondrial disease: genetics and management · 2015
  No notice
• Whole exome sequencing of suspected mitochondrial patients in clinical practice · 2015
  No notice
• The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes · 2014
  No notice
• Mitochondria: Impaired mitochondrial translation in human disease · 2014
  No notice
• Mitochondrial genetics · 2013
  No notice

Reads

A person counts once a day per paper. We keep no cookie and no address: a reader is a hash that changes every day. Any month under five reads shows no number.