The relation between metabolism of biopterin and dystonia-parkinsonism

H. Ichinose, Tamae Oe, T. Suzuki, Hidehito Inagaki, T. Nagatsu

研究成果: Short survey

抜粋

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.

元の言語English
ページ(範囲)85-89
ページ数5
ジャーナルJapanese Journal of Psychopharmacology
19
発行部数2
出版物ステータスPublished - 17-07-1999

    フィンガープリント

All Science Journal Classification (ASJC) codes

  • Medicine(all)

これを引用

Ichinose, H., Oe, T., Suzuki, T., Inagaki, H., & Nagatsu, T. (1999). The relation between metabolism of biopterin and dystonia-parkinsonism. Japanese Journal of Psychopharmacology, 19(2), 85-89.