Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Hélène Pagniez-Mammeri, Sandrine Loublier, Alain Legrand, Paule Bénit, Pierre Rustin, Abdelhamid Slama

Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.

Molecular genetics and metabolism 2012 Feb

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Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial genome. Its deficiency is the most frequently encountered in mitochondrial disorders. Here, we summarize recent data obtained on architecture of complex I, and review the pathogenic mutations identified to date in nuclear structural complex I genes. The structural NDUFS1, NDUFS2, NDUFV1, and NDUFS4 genes are mutational hot spot genes for isolated complex I deficiency. The majority of the pathogenic mutations are private and the genotype-phenotype correlation is inconsistent in the rare recurrent mutations. Copyright © 2011 Elsevier Inc. All rights reserved.

Citation

Hélène Pagniez-Mammeri, Sandrine Loublier, Alain Legrand, Paule Bénit, Pierre Rustin, Abdelhamid Slama. Mitochondrial complex I deficiency of nuclear origin I. Structural genes. Molecular genetics and metabolism. 2012 Feb;105(2):163-72