Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation

Hidehito Inagaki, Tamae Ohye, Takahiro Suzuki, Masaya Segawa, Yoshiko Nomura, Toshiharu Nagatsu, Hiroshi Ichinose

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Hereditary progressive dystonia with marked diurnal fluctuation (HPD; dopa-responsive dystonia, DRD) have been recently found to be caused by a genetic defect in the GTP cyclohydrolase I (GCH1) gene. In this study, we quantified the mRNA level of GCH1 in phytohemagglutinin (PHA)-stimulated mononuclear blood cells from one Japanese family that do not have a mutation in the coding region or splice junctions of the gene. The results showed that the amounts of the GCH1 mRNA were decreased to about 40% of the normal level in both patients and carriers. In addition, we found that the GCH1 mRNA was transcribed from only one allele, indicating that the other allele was in an inactive state. These results suggest that some novel mutations should exist on one of the alleles in some unknown region of the GCH1 gene, and may decrease the GCH1 mRNA causing the HPD/DRD symptoms.

Original languageEnglish
Pages (from-to)747-751
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume260
Issue number3
DOIs
Publication statusPublished - 14-07-1999

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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