Mitochondrial disorders caused by mutations in respiratory chain assembly factors

Semin Fetal Neonatal Med. 2011 Aug;16(4):197-204. doi: 10.1016/j.siny.2011.05.004. Epub 2011 Jun 15.


Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the respiratory complexes, the majority of mutations found to date affect factors that do not form part of the final complexes. These assembly factors or chaperones have multiple functions ranging from cofactor insertion to proper assembly/stability of the complexes. Although significant progress has been made in the last few years in the discovery of new assembly factors, the function of many remains elusive. Here, we describe assembly factors or chaperones that are required for respiratory chain complex assembly and their clinical relevance.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Electron Transport / genetics*
  • Electron Transport Chain Complex Proteins / genetics*
  • Electron Transport Chain Complex Proteins / metabolism
  • Humans
  • Infant, Newborn
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism
  • Mutation*


  • DNA, Mitochondrial
  • Electron Transport Chain Complex Proteins
  • Molecular Chaperones