tailieunhanh - Báo cáo khoa học: The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitiv

Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of theb-oxidationofmedium-chain in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, yet there are no reports of patients presenting clinically with this mutation. As a basis for judging its potential consequences we have examined the protein phe-notype of the Y42H mutation and the common disease-associatedK304E mutation. . | Eur. J. Biochem. 271 4053-4063 2004 FEBS 2004 doi The Y42H mutation in medium-chain acyl-CoA dehydrogenase which is prevalent in babies identified by MS MS-based newborn screening is temperature sensitive Linda O Reillv1. Peter Bross2 Thomas J. Corvdon3. Simon E Olnin4 Jakob Hansen2 John M. Kennev5 6. . . . Shawn E. McCandless7 Dianne M. Frazier8 Vibeke Winter2 Niels Gregersen2 Paul C. Engel1 and Brage Storstein Andresen2 3 1 Department of Biochemistry and the Conway Institute of Biomolecular and Biomedical Research University College Dublin Ireland 2Research Unit for Molecular Medicine Aarhus University Hospital and Faculty of Health Science Skejby Sygehus Aarhus Denmark 3 Department of Human Genetics University of Aarhus Denmark 4Department of Clinical Chemistry Sheffield Children s Hospital UK 5Institute of Storage Ring Facilities University of Aarhus Denmark 6Department of Physics East Carolina University Greenville NC USA 1 Department of Genetics Case Western Reserve University Cleveland OH USA Department of Pediatrics University of North Carolina at Chapel Hill NC USA Medium-chain acyl-CoA dehydrogenase MCAD is a homotetrameric flavoprotein which catalyses the initial step of the b-oxidation of medium-chain fatty acids. Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS MS yet there are no reports of patients presenting clinically with this mutation. As a basis for judging its potential consequences we have examined the protein phenotype of the Y42H mutation and the common disease-associated K304E mutation. Our studies of the intracellular biogenesis of the variant proteins at different temperatures in isolated mitochondria after in vitro translation together with studies of cultured patient cells indicated that steady-state levels of the Y42H variant in comparison to wild-type were decreased at higher temperature though to a lesser extent than .

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