Article
Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Pain - 1 Jun 2018
Nasser Arafat, Møller Anette Torvin, Hellmund Vibe, Thorborg Sidsel Salling, Jespersgaard Cathrine, Bjerrum Ole J, Dupont Erik, Nachman Gösta, Lykkesfeldt Jens, Jensen Troels Staehelin, Møller Lisbeth Birk
Abstract excerpt
Human studies have demonstrated a correlation between noncoding polymorphisms of "the pain protective" haplotype in the GCH1 gene that encodes for GTP cyclohydrolase I (GTPCH1)-which leads to reduced tetrahydrobiopterin (BH4) production in cell systems-and a diminished perception of experimental and clinical pain. Here, we investigate whether heterozygous mutations in the GCH1 gene which lead to a profound BH4...
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