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Can I read Mutations in the AUH gene cause 3-methylglutaconic aciduria type I on EtoBox?
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I by T.B. Nga Ly; Verena Peters; K. Michael Gibson; Michael Liesert; Wolfgang Buckel; Bridget Wilcken; Kevin Carpenter; Regina Ensenauer; Georg F. Hoffmann; Matthias Mack; Johannes Zschocke is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Mutations in the AUH gene cause 3-methylglutaconic aciduria type I about?
The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-methylglutaconic aciduria type I (MGA1), but neither the enzyme nor its gene have been described in any organism. Here we report that human 3-methylglutaconyl-CoA hydratase is identical with a previously described RNA-binding protein (designated AUH) possessing enoyl-CoA hydratase activity. Molecular analyses in five patients from four independent families revealed homozygosity or compound heterozygosity for mutations in the AUH gene; most mutations are predicted to completely abolish protein function. Mutations identified include c.80delG, R197X, IVS8-1G>A, A240V, and c.613\_614insA. Clinical severity of MGA1 in published patients has been quite variable. Included in the present study is an additional patient with MGA1 who was detected by neonatal screening and has remained asymptomatic up to his present age of 2 years. The boy is homozygous for an N-terminal frameshift mutation in the AUH
Who reads Mutations in the AUH gene cause 3-methylglutaconic aciduria type I?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- T.B. Nga Ly; Verena Peters; K. Michael Gibson; Michael Liesert; Wolfgang Buckel; Bridget Wilcken; Kevin Carpenter; Regina Ensenauer; Georg F. Hoffmann; Matthias Mack; Johannes Zschocke
- Publisher
- Hindawi Limited
- Published
- 2003
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)