Abstract
Knowledge concerning the approximately 70 human nuclear genes creating the essential building-blocks of the five multi-protein subunit complexes of the oxidative phosphorylation (OXPHOS) system has been expanded greatly in the past few years. However, knowledge concerning the numerous human genes involved in the regulation of transcription, translation, post-translational modification, mitochondrial signalling, import, quality control, folding and assembly of the OXPHOS system is still rather scanty. It may be expected that this scenario, by the application of direct (candidate gene identification by comparison between known genes in lower species and the human expressed sequence tag database) and indirect genetic strategies (the chromosome transfer technique, linkage analysis and positional cloning) will rapidly change. By now, a limited number of structural and non-structural nuclear gene defects have been found.
Conclusion This review summarises the state of our current knowledge of nuclear gene mutations in oxidative phosphorylation disorders.
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Smeitink, J., Sengers, R., Trijbels, F. et al. Nuclear genes and oxidative phosphorylation disorders: a review. Eur J Pediatr 159 (Suppl 3), S227–S231 (2000). https://doi.org/10.1007/PL00014408
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DOI: https://doi.org/10.1007/PL00014408