Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit

IUBMB Life. 2013 Mar;65(3):202-8. doi: 10.1002/iub.1127. Epub 2013 Feb 3.

Abstract

To allow the rational design of effective treatment strategies for human mitochondrial disorders, a proper understanding of their biochemical and pathophysiological aspects is required. The development and evaluation of these strategies require suitable model systems. In humans, inherited complex I (CI) deficiency is one of the most common deficiencies of the mitochondrial oxidative phosphorylation system. During the last decade, various cellular and animal models of CI deficiency have been presented involving mutations and/or deletion of the Ndufs4 gene, which encodes the NDUFS4 subunit of CI. In this review, we discuss these models and their validity for studying human CI deficiency.

Publication types

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

MeSH terms

  • Animals
  • Calcium / metabolism
  • Disease Models, Animal
  • Electron Transport Complex I / deficiency
  • Electron Transport Complex I / genetics
  • Electron Transport Complex I / metabolism
  • Exons
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Gene Expression
  • Humans
  • Mice
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / pathology
  • Models, Biological
  • Mutation*
  • NADH Dehydrogenase / genetics*
  • NADH Dehydrogenase / metabolism
  • Oxidative Phosphorylation
  • Protein Subunits / genetics*
  • Protein Subunits / metabolism

Substances

  • Protein Subunits
  • NADH Dehydrogenase
  • Electron Transport Complex I
  • NDUFS4 protein, human
  • Calcium

Supplementary concepts

  • Mitochondrial complex I deficiency