Cellular and animal models for mitochondrial complex i deficiency: A focus on the NDUFS4 subunit

Megan E. Breuer, Peter H.G.M. Willems, Jan A.M. Smeitink, Werner J.H. Koopman*, Marco Nooteboom

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

36 Citations (Scopus)

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. © 2013 IUBMB Life, 65(3):202-208, 2013

Original languageEnglish
Pages (from-to)202-208
Number of pages7
JournalIUBMB Life
Volume65
Issue number3
DOIs
Publication statusPublished - Mar 2013
Externally publishedYes

Keywords

  • fibroblasts
  • knockout mouse
  • Leigh syndrome
  • neurodegenerative disease
  • validity

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