The relation between metabolism of biopterin and dystonia-parkinsonism

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

Research output: Contribution to journalShort survey

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.

Original languageEnglish
Pages (from-to)85-89
Number of pages5
JournalJapanese Journal of Psychopharmacology
Volume19
Issue number2
Publication statusPublished - 17-07-1999

Fingerprint

GTP Cyclohydrolase
Biopterin
Dystonia
Parkinsonian Disorders
Dystonic Disorders
Mutation
Tyrosine 3-Monooxygenase
Guanosine Triphosphate
Genes
Reference Values

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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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.",
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The relation between metabolism of biopterin and dystonia-parkinsonism. / Ichinose, H.; Oe, Tamae; Suzuki, T.; Inagaki, Hidehito; Nagatsu, T.

In: Japanese Journal of Psychopharmacology, Vol. 19, No. 2, 17.07.1999, p. 85-89.

Research output: Contribution to journalShort survey

TY - JOUR

T1 - The relation between metabolism of biopterin and dystonia-parkinsonism

AU - Ichinose, H.

AU - Oe, Tamae

AU - Suzuki, T.

AU - Inagaki, Hidehito

AU - Nagatsu, T.

PY - 1999/7/17

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AB - 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.

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