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In multiple studies involving patients with proven GCH1 gene mutation, it was found that they had more psychiatric comorbidities and sleep disturbances compared to the general population [3-5].
The most extensively studied cause of dopa-responsive dystonia is Segawa Disease, which is due to an autosomal dominant mutation in the GTP cyclohydrolase 1 (GCH1) gene .
Furthermore, the upregulation of the enzyme GCH1, involved in BH4 biosynthesis, combined to the downregulation of its feedback regulator GCHFR, suggests that under conditions in which BH4 oxidation is feasible, such as under oxidising conditions, signals enhancing BH4 bioavailability may be activated by endothelial cells, aimed at preventing or possibly reverting eNOS uncoupling [38, 68].
(i) HSP90AB1: heat shock protein 90kDa [alpha] (cytosolic), class B member 1; (ii) GLA: galactosidase a; (iii) GCH1: GTP cyclohydrolase 1; (iv) GCHFR: GTP cyclohydrolase I feedback regulator; (v) DDAH2: dimethylarginine dimethylaminohydrolase 2; (vi) ARG2: arginase, type II.
Here HJD also altered the NO pathway related genes including IL1b, Klrk1, Snca, and Gch1. Taking together, these findings suggest that HJD may reduce hypertension by regulating NO pathways.
Zhang et al., "Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk," Journal of Clinical Investigation, vol.
The GCH1 enzyme is involved in the rate-limiting step of tetrahydrobiopterin (BH4) synthesis (Fig.
Pedigree analysis suggested that the disease was segregating as an autosomal recessive disorder, and both twins had previously undergone screening of the GCH1 and TH genes, both of which were normal.
Inactivating mutations in GCH1 have been shown to cause dopa-responsive dystonia, and an atypical hyperphenylalaninemia characterized by mental retardation, seizures, hyperthermia, and abnormalities of muscle tone (12).
Identification of the pain-protective GCH1 haplotype (Fig.
Recent studies have demonstrated that DRD is caused by autosomal dominant mutations in the coding region of the GCH1 gene, which encodes for GTPCH (12), but only in 40-50% of cases (13).
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