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  • Title: A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
    Author: Hirano M, Komure O, Ueno S.
    Journal: Neurosci Lett; 1999 Feb 05; 260(3):181-4. PubMed ID: 10076897.
    Abstract:
    Dopa-responsive dystonia (DRD) due to mutant GTP cyclohydrolase I (GCH) shows the considerable heterogeneity of clinical phenotypic expression. To explain the clinical diversity, we studied a Japanese family with a novel mutant GCH (GCH-G90V), where an affected heterozygote had a higher mutant/normal mRNA ratio than an unaffected heterozygote. Coexpression experiments using the mutant with wild-type GCH showed that GCH-G90V inactivated the normal enzyme in a dose-dependent manner, suggesting that the dominant negative effect of a mutant GCH on the normal enzyme might be one of the molecular mechanisms for the clinical heterogeneity of DRD.
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