Data di Pubblicazione:
2006
Citazione:
Mutations in the Gs alpha gene causing hormone resistance / G. Mantovani, A. Spada. - In: BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM. - ISSN 1521-690X. - 20:4(2006), pp. 501-513.
Abstract:
G-protein-coupled receptors (GPCRs) and G proteins mediate the effects of a number of hormones of relevance to endocrinology. Genes encoding these molecules may be targets of loss- or gain-of-function mutations, resulting in endocrine disorders. The only mutational change of G proteins so far unequivocally associated with endocrine disorders occurs in the Gsα gene (GNAS1, guanine nucleotide binding protein α stimulating activity polypeptide 1), which activates cyclic AMP (cAMP)-dependent pathways. Heterozygous loss-of-function mutations of GNAS1 in the active maternal allele cause resistance to hormones acting through Gsα-coupled GPCRs, whereas somatic gain-of-function mutations cause proliferation of endocrine cells recognizing cAMP as mitogen. This review will focus on inactivating mutations leading to hormone resistance syndromes, i.e., pseudohypoparathyroidism types Ia and Ib.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Albright's osteodystrophy; GNAS1; imprinting; pseudohypoparathyroidism; Female; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Genomic Imprinting; Humans; Mutation; Parathyroid Hormone; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Endocrinology; Endocrinology, Diabetes and Metabolism
Elenco autori:
G. Mantovani, A. Spada
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