Endocrine Abstracts

The pharmacology and function of G protein-coupled receptors (GPCRs) is frequently studied following expression of a single receptor in heterologous cell lines. However, many GPCRs are co-expressed. We wished to investigate how expression of pairs of receptors might modulate their function. Using a Human Embryonic Kidney 293 cell line in which the CB1 cannabinoid receptor was expressed constitutively and in which varying levels of expression of the orexin-1 receptor could be i...

The family of adrenergic receptors contains nine different subtypes of G protein-coupled receptors which mediate the biological effects of adrenaline and noradrenaline. With few exceptions, the full therapeutic potential of subtype-selective therapy has not yet been explored for the group of adrenergic receptors. In the absence of sufficiently subtype-selective ligands which can distinguish between individual receptor subtypes of the adrenergic family, gene-targeted mouse mode...

The identification of naturally occurring genetic mutations of the FSH receptor has led to a better understanding of the role of FSH in folliculogenesis and has allowed to identify the cause of several syndroms. Inactivating mutations of the follicle stimulating hormone (FSH) receptor have been described in rare cases of premature ovarian failure (POF). We have studied a new patient presenting a complete POF phenotype, with high plasma FSH levels, very low estrogen and inhibin...

More than 190 disease-causing mutations of V2 vasopressin receptor (AVPR2) have been identified in patients with X-linked nephrogenic diabetes insipidus (NDI). About half of the mutations lead to a loss or truncation of the receptor protein whereas missense mutations present a variety of functional alterations such as reduced binding and signaling abilities and improper cell surface trafficking. To date, the therapy of NDI focuses mainly on treating clinical symptoms with thia...