A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome |
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| Authors: | Lebon Sophie Rodriguez Diana Bridoux Delphine Zerrad Amal Rötig Agnès Munnich Arnold Legrand Alain Slama Abdelhamid |
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| Affiliation: | 1. Department of Pediatrics, University of Gothenburg, The Queen Silvia Children''s Hospital, Gothenburg, Sweden;2. Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden;3. Akershus University Hospital, Lørenskog, Norway;4. Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden;1. Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou, China;2. The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou, China |
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| Abstract: | ![]()
Defects in NADH:ubiquinone oxidoreductase, the complex I of the mitochondrial respiratory chain represents the most frequent cause of mitochondrial diseases and is associated with a wide clinical spectrum varying from severe lactic acidosis in infants to muscle weakness in adults. Here, we report a patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit. The homozygous mutation at nucleotide (nt) 434 G>A resulted in the modification of the arginine 145 to histidine in a highly conserved region of the protein. Parents were heterozygous carriers for this mutation. The mutation was absent from over than 100 healthy controls from the same ethnic origin. Identifying nuclear mutations as a cause of respiratory chain disorders will enhance the possibility of prenatal diagnosis and help us to understand how moleculardefects can lead to complex I deficiency. |
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| Keywords: | Respiratory chain deficiency Mitochondria Leigh syndrome NDUSF7 Complex I deficiency |
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