GCH1 expression in human cerebellum from healthy individuals is not gender dependent.

Détails

ID Serval
serval:BIB_12204BF306B6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
GCH1 expression in human cerebellum from healthy individuals is not gender dependent.
Périodique
Neuroscience Letters
Auteur(s)
Wider C., Lincoln S., Dachsel J.C., Kapatos G., Heckman M.G., Diehl N.N., Papapetropoulos S., Mash D., Rajput A., Rajput A.H., Dickson D.W., Wszolek Z.K., Farrer M.J.
ISSN
1872-7972[electronic], 0304-3940[linking]
Statut éditorial
Publié
Date de publication
2009
Volume
462
Numéro
1
Pages
73-75
Langue
anglais
Résumé
Dopa-responsive dystonia (DRD) is a familial childhood-onset disease characterized by fluctuating dystonia, associated with tremor and parkinsonism in some patients. In most families the disease displays autosomal dominant inheritance due to mutations in the GTP cyclohydrolase 1 gene (GCH1). Penetrance and symptom severity display strong female predominance for which gender-specific GCH1 expression has been hypothesized. In this study, GCH1 mRNA expression was measured in cerebellar tissue from 66 healthy human subjects (30 women), and in cerebellar and nigral tissue from eight individuals. No significant difference was found between men and women with small effect sizes observed. Although the correlation between cerebellar and nigral GCH1 expression remains to be further examined, this exploratory study does not support gender-specific GCH1 expression being the basis for the skewed gender distribution observed in DRD patients.
Mots-clé
Aged, Aged, 80 and over, Aging, Cerebellum/enzymology, Dystonic Disorders, Female, GTP Cyclohydrolase/metabolism, Humans, Linear Models, Male, Middle Aged, RNA, Messenger/metabolism, Sex Characteristics, Substantia Nigra/metabolism
Pubmed
Création de la notice
24/09/2010 19:01
Dernière modification de la notice
20/08/2019 13:39
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