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 language | English |
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Pages (from-to) | 202-208 |
Number of pages | 7 |
Journal | IUBMB Life |
Volume | 65 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar 2013 |
Externally published | Yes |
Keywords
- fibroblasts
- knockout mouse
- Leigh syndrome
- neurodegenerative disease
- validity