Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
Experimental & Molecular Medicine
;
: 271-275, 2008.
Article
Dans Anglais
| WPRIM
| ID: wpr-205430
ABSTRACT
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of an allele might even lead to predisposition to cancer. In this study, we found that a decreased expression of an allele might cause predisposition to genetic disease. Dopa responsive dystonia (DRD) is a dominant disease caused by mutations in GCH1 gene. The sequence analysis of the GCH1 in a patient with typical DRD symptoms revealed two novel missense mutations instead of a single dominant mutation. Family members with either of the mutations did not have any symptoms of DRD. The expression level of a R198W mutant allele decreased to about 50%, suggesting that modestly decreased expression caused by an SNP should lead to predisposition of a genetic disease in susceptible individuals.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Polymorphisme génétique
/
Pied bot varus équin congénital
/
Dopamine
/
Lévodopa
/
Prédisposition génétique à une maladie
/
Mutation faux-sens
/
Troubles dystoniques
/
Gènes récessifs
/
GTP cyclohydrolase I
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Experimental & Molecular Medicine
Année:
2008
Type:
Article
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