Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond

Mitochondrion. 2012 Jan;12(1):57-65. doi: 10.1016/j.mito.2011.06.011. Epub 2011 Jul 2.


Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of 45 different subunits, encoded by the mitochondrial (mtDNA) and nuclear DNA (nDNA). In humans, mutations in nDNA-encoded subunits cause severe neurodegenerative disorders like Leigh Syndrome with onset in early childhood. The pathophysiological mechanism of these disorders is still poorly understood. Here we summarize the current knowledge concerning the consequences of nDNA-encoded CI mutations in patient-derived cells, present mouse models for human CI deficiency, and discuss potential treatment strategies for CI deficiency.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / drug effects
  • Electron Transport Complex I / genetics
  • Humans
  • Mice
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics


  • Electron Transport Complex I

Supplementary concepts

  • Mitochondrial complex I deficiency