Studies from Radboud University have provided new information about genetics & genomics
2009 AUG 4 - (NewsRx.com) -- According to a study from Netherlands, "Mitochondrial complex I deficiency is the most prevalent and least understood disorder of the oxidative phosphorylation system. The genetic cause of many cases of isolated complex I deficiency is unknown because of insufficient understanding of the complex I assembly process and the factors involved." "We performed homozygosity mapping and gene sequencing to identify the genetic defect in five complex I-deficient patients from three different families. All patients harbored mutations in the NDUFAF3 (C3ORF60) gene, of which the pathogenic nature was assessed by NDUFAF3-GFP baculovirus complementation in fibroblasts. We found that NDUFAF3 is a genuine mitochondrial complex I assembly protein that interacts with complex I subunits. Furthermore, we show that NDUFAF3 tightly interacts with NDUFAF4 (C6ORF66), a protein previously implicated in complex I deficiency. Additional gene conservation analysis links NDUFAF3 to bacterial-membrane-insertion gene cluster SecF/SecD/YajC and to C8ORF38, also implicated in complex I deficiency," wrote A. Saada and colleagues, Radboud University. The researchers concluded: "These data not only show that NDUFAF3 mutations cause complex I deficiency but also relate different complex I disease genes by the close cooperation of their encoded proteins during the assembly process." Saada and colleagues published the results of their research in American Journal of Human Genetics (Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease. American Journal of Human Genetics, 2009;84(6):718-727). For additional information, contact L.G. Nijtmans, Radboud University, Medical Center, Nijmegen Center Mitochondrial Disorders, Dept. of Pediatrics, Geert Grootepl 10, NL-6500 HB Nijmegen, Netherlands. The publisher of the American Journal of Human Genetics can be contacted at: Cell Press, 600 Technology Square, 5TH Floor, Cambridge, MA 02139, USA. Keywords: Netherlands, Genetics & Genomics, Baculovirus, Genetics, Mitochondrial Disease, Virology, Radboud University. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.
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