CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR EXPRESSION IN HUMAN HYPOTHALAMUS

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