The majority of polypeptide hormones and even extracellular calcium signal their target cells through G protein-coupled receptors (GPCRs). Recently, many mutations have been both identified and associated with several endocrine disorders, such as nephrogenic diabetes insipidus, familial hypothyroidism, familial male precocious puberty and sporadic hyperfunctional thyroid nodules. In this review, the G-protein coupled signal transduction mechanism is described. Moreover, the mechanism through which GPCRs’ mutations lead to endocrine disease is reviewed. Finally, we will comment on implications for diagnosis and treatment related to increasing research on GPCRs.
G protein-coupled receptors; Activating mutations; Inactivating mutations; Endocrine diseases
