GCH1 expression in human cerebellum from healthy individuals is not gender dependant

Christian Wider, Sarah Lincoln, Justus C. Dachsel, Gregory Kapatos, Michael G. Heckman, Nancy N. Diehl, Spiridon Papapetropoulos, Deborah Mash, Alex Rajput, Ali H. Rajput, Dennis W. Dickson, Zbigniew K. Wszolek, Matthew J. Farrer

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)73-75
Number of pages3
JournalNeuroscience Letters
Volume462
Issue number1
DOIs
StatePublished - Sep 18 2009

Keywords

  • Dopa-responsive dystonia
  • DRD
  • GCH1 expression
  • Gender distribution

ASJC Scopus subject areas

  • Neuroscience(all)

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    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. (2009). GCH1 expression in human cerebellum from healthy individuals is not gender dependant. Neuroscience Letters, 462(1), 73-75. https://doi.org/10.1016/j.neulet.2009.06.082