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Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation
- Source :
- Biochemical and biophysical research communications. 260(3)
- Publication Year :
- 1999
-
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.
- Subjects :
- Adult
Male
GTP cyclohydrolase I
Biophysics
medicine.disease_cause
Biochemistry
Gene Expression Regulation, Enzymologic
Nuclear Family
Japan
Gene expression
medicine
Coding region
Humans
RNA, Messenger
Allele
Phytohemagglutinins
GTP Cyclohydrolase
Molecular Biology
Gene
Alleles
Aged
Dystonia
Messenger RNA
Mutation
Polymorphism, Genetic
biology
Reverse Transcriptase Polymerase Chain Reaction
Cell Biology
Exons
Middle Aged
medicine.disease
Molecular biology
Circadian Rhythm
Pedigree
biology.protein
Leukocytes, Mononuclear
Female
Subjects
Details
- ISSN :
- 0006291X
- Volume :
- 260
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Biochemical and biophysical research communications
- Accession number :
- edsair.doi.dedup.....6cb88a9544a73869fd0e244da8f30768