Abstract |
The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase (SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD). The mutation detected in SPR is a G-->A transition at position -13 of the untranslated region of the gene. This resulted in drastically reduced activity of sepiapterin reductase in the patient's fibroblasts. The findings indicate that haploinsufficiency of SPR can be a rare cause of DRD.
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Authors | Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, Juliane Bitsch, Michael Zuker, Sibylla Hummel, Ulrich Müller |
Journal | Neurogenetics
(Neurogenetics)
Vol. 5
Issue 3
Pg. 187-90
(Sep 2004)
ISSN: 1364-6745 [Print] United States |
PMID | 15241655
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- 5' Untranslated Regions
- Alcohol Oxidoreductases
- sepiapterin reductase
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Topics |
- 5' Untranslated Regions
- Adult
- Alcohol Oxidoreductases
(genetics)
- Blotting, Western
- DNA Mutational Analysis
- Dystonic Disorders
(genetics)
- Exons
- Female
- Fibroblasts
(metabolism)
- Heterozygote
- Humans
- Models, Biological
- Mutation
- Polymerase Chain Reaction
- Skin
(metabolism)
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