Article
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Molecular genetics and metabolism - 1 Jul 2010
Hoefs Saskia J G, Skjeldal Ola H, Rodenburg Richard J, Nedregaard Bård, van Kaauwen Edwin P M, Spiekerkötter Ute, von Kleist-Retzow Jürgen-Christoph, Smeitink Jan A M, Nijtmans Leo G, van den Heuvel Lambert P
Abstract excerpt
Mitochondrial complex I deficiency is the most frequently encountered defect of the oxidative phosphorylation system. To identify the genetic cause of the complex I deficiency, we screened the gene encoding the NDUFS1 subunit. We report 3 patients with low residual complex I activity expressed in cultured fibroblasts, which displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop...
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