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

Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.

IUBMB life 2013 Mar

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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. Copyright © 2013 International Union of Biochemistry and Molecular Biology, Inc.

Citation

Megan E Breuer, Peter H G M Willems, Jan A M Smeitink, Werner J H Koopman, Marco Nooteboom. Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. IUBMB life. 2013 Mar;65(3):202-8