Assembly factors of human mitochondrial complex I and their defects in disease

IUBMB Life. 2010 Jul;62(7):497-502. doi: 10.1002/iub.335.

Abstract

NADH-ubiquinone oxidoreductase (complex I) is a large, multimeric enzyme complex involved in the generation of ATP by oxidative phosphorylation. Complex I is comprised of 45 subunits which must be assembled together in a coordinated process to form the mature holoenzyme. In recent years, much progress has been made into understanding how complex I is assembled and the work provides potential insights into the biogenesis of other multisubunit membrane complexes. For complex I assembly to proceed effectively, a group of proteins termed "assembly factors" are required. A number of these assembly factors have now been identified and characterized; however, their exact roles in complex I biogenesis are not yet fully understood. This review summarizes the current model of human complex I assembly and the roles played by different assembly factors at early, mid, and late assembly stages. Defects in assembly factors which disrupt complex I assembly and contribute to human disease pathogenesis will also be discussed.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / physiology
  • Apoptosis Inducing Factor / physiology
  • DNA, Mitochondrial / physiology
  • Electron Transport Complex I / biosynthesis
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / genetics*
  • Humans
  • Methyltransferases / physiology
  • Mitochondria / genetics
  • Mitochondrial Proteins / physiology
  • Molecular Chaperones / physiology
  • NADH Dehydrogenase / physiology
  • Nucleoside-Triphosphatase / physiology

Substances

  • AIFM1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Apoptosis Inducing Factor
  • DNA, Mitochondrial
  • Ecsit protein, human
  • Mitochondrial Proteins
  • Molecular Chaperones
  • NDUFAF2 protein, human
  • NDUFAF3 protein, human
  • NDUFAF6 protein, human
  • NADH Dehydrogenase
  • Methyltransferases
  • NDUFAF5 protein, human
  • Nucleoside-Triphosphatase
  • Electron Transport Complex I
  • NDUFAF1 protein, human