Cystic fibrosis transmembrane conductance regulator expression in human hypothalamus

Andrew E. Mulberg, Richard T. Weyler, Steven M. Altschuler, Thomas M. Hyde

Research output: Contribution to journalArticlepeer-review


WE have previously characterized the expression of the cystic fibrosis transmembrane conductance regulator protein (CFTR) gene, mRNA and protein in rat brain with reverse transcriptase (RT)-PCR amplification, in situ hybridization and immunocytochemistry. We now report that the CFTR mRNA is expressed in the human anterior hypothalamus, an area involved in regulation of appetite, resting energy expenditure and sexual differentiation. Expression of CFTR in neurons localized to this region may elucidate the pathogenesis of other nonpulmonary manifestations of cystic fibrosis which commonly are observed in children with CF, including congenital absence of the vas deferens. Neuron-specific expression of CFTR in brain may be involved in the regulation of homeostatic functions including reproductive function and fertility through effects on neurosecretion, i.e. GnRH release. Dysregulation of normal neuropeptide vesicle trafficking by mutant CFTR in brain my lead to alteration in physiological function.

Original languageEnglish (US)
Pages (from-to)141-144
Number of pages4
Issue number1
StatePublished - Jan 5 1998
Externally publishedYes


  • Cystic fibrosis transmembrane conductance regulator (CFTR)
  • Fertility
  • Gonadotropin-releasing hormone (GnRH)
  • Human anterior hypothalamus
  • Non-isotopic in situ hybridization (NISH)

ASJC Scopus subject areas

  • Neuroscience(all)


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