Mitochondrial complex I deficiency of nuclear origin I. Structural genes |
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| Authors: | Pagniez-Mammeri Hélène Loublier Sandrine Legrand Alain Bénit Paule Rustin Pierre Slama Abdelhamid |
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| Institution: | 1. Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan;2. Department of Medical Management and Informatics, Hokkaido Information University, Ebetsu, Hokkaido, Japan;3. NPO for the Promotion of Research on Intellectual Property Tokyo, Chiyoda-ku, Tokyo, Japan;4. Department of Clinical Genetics, Meiji Pharmaceutical University, Kiyose, Tokyo, Japan;1. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA;2. Division of Human Genetics The Children’s Hospital of Philadelphia Philadelphia PA USA;3. Department of Pathology and Laboratory Medicine Perelman School of Medicine, University of Pennsylvania Philadelphia PA USA;4. Division of Genomic Diagnostics The Children’s Hospital of Philadelphia Philadelphia PA USA;5. Division of Genetics, Department of Pediatrics Rush University Medical Center Chicago IL USA;6. Department of Biomedical and Health Informatics The Children’s Hospital of Philadelphia Philadelphia PA USA;7. Department of Pathology Memorial Sloan Kettering Cancer Center New York NY USA;8. Division of Genetics Cooper University Health Care Camden NY USA;1. Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands;2. Research School for Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands;3. Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands;4. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;5. Donders center for Neuroscience, Radboudumc, Nijmegen, The Netherlands;6. MHENS school of Neuroscience, Maastricht University, Maastricht, The Netherlands |
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| Abstract: | 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. |
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