Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

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.

• 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)

Chemical References

• 5' Untranslated Regions
• Alcohol Oxidoreductases
• sepiapterin reductase

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)