[The relation between metabolism of biopterin and dystonia-parkinsonism].

Article Details

Citation

Copy to clipboard

Ichinose H, Ohye T, Suzuki T, Inagaki H, Nagatsu T

[The relation between metabolism of biopterin and dystonia-parkinsonism].

Nihon Shinkei Seishin Yakurigaku Zasshi. 1999 Apr;19(2):85-9.

PubMed ID

10464780 [ View in PubMed

]

Abstract

Tetrahydrobiopterin (BH4) is an essential cofactor for tyrosine hydroxylase. BH4 can be synthesized from GTP through three enzymatic reactions. The rate-limiting step of the BH4 synthesis is catalyzed by GTP cyclohydrolase I (GCH). Recently, we found that GCH is a causative gene for hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD). However, several problems still remain to be solved. The first concern is the presence of asymptomatic carriers in the disease. The difference between symptomatic and asymptomatic carriers is unknown. Second, we cannot find any mutation in the coding region of the GCH gene in about 40% of the patients. What kind of mutation would be present in these patients. The last concern is the molecular mechanism how the enzymatic activity is decreased to less than 20% of normal values. Further studies are required to solve the questions.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Sapropterin	Tyrosine 3-monooxygenase	Protein	Humans	Yes	Cofactor	Details