TAILIEUCHUNG - Báo cáo khoa học: Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD) K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein

Two novel rare mutations, MCAD 842GfiC (R256T) and MCAD 1166AfiG (K364R), have been investigated to assess how far the bio-chemical properties of the mutant proteins correlate with the clinical phenotype of medium chain acyl-CoA dehydrogenase (MCAD) deficiency. When the gene for K364R was overexpressed inEscherichia coli, the syn-thesized mutant protein only exhibited activity when the gene for chapero-nin GroELS was co-overexpressed. | ềFEBS Journal Two novel variants of human medium chain acyl-CoA dehydrogenase MCAD K364R a folding mutation and R256T a catalytic-site mutation resulting in a well-folded but totally inactive protein Linda P. O Reilly1 Brage S. Andresen2 and Paul C. Engel1 1 Department of Biochemistry and Conway Institute of Biomolecular and BiomedicalResearch University College Dublin Belfield Dublin Ireland 2 Research Unit for Molecular Medicine University Hospital Skejby Sygehus Aarhus and Institute of Human Genetics Aarhus University Denmark Keywords active site enzyme deficiency medium chain acyl-CoA dehydrogenase MCAD point mutations protein folding Correspondence P. C. Engel Department of Biochemistry Conway Institute University College Dublin Belfield Dublin 4 Ireland Fax 353 12837211 Tel 353 17166764 E-mail Website http biochem Enzymes Medium chain acyl-CoA dehydrogenase MCAD EC long chain acyl-CoA dehydrogenase LCAD EC short chain acyl-CoA dehydrogenase SCAD EC glutaryl-CoA dehydrogenase GCD EC isovaleryl-CoA dehydrogenase IVD EC electron transferring protein ETF EC . Current address Department of Molecular Genetics and Biochemistry University of Pittsburgh 200 Lothrop Street Pittsburgh PA 15261 USA Two novel rare mutations MCAD 842GfiC R256T and MCAD 1166AfiG K364R have been investigated to assess how far the biochemical properties of the mutant proteins correlate with the clinical phenotype of medium chain acyl-CoA dehydrogenase MCAD deficiency. When the gene for K364R was overexpressed in Escherichia coli the synthesized mutant protein only exhibited activity when the gene for chaperonin GroELS was co-overexpressed. Levels of activity correlated with the amounts of native MCAD protein visible in western blots. The R256T mutant by contrast displayed no activity either with or without chaperonin but in this case a strong MCAD protein band was seen in the western blots throughout. The .

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