[Recent data on the physiopathology of hyperthyroidism].
Cloning of the TSH receptor has led to marked progress in the understanding of the pathogenesis of hyperthyroidism. Genetic studies in familial cases of Graves disease have allowed to dismiss the TSH receptor as a candidate gene. Loci harbouring genes probably involved in the occurrence of Graves' disease have been described. Purification of native TSH receptor has allowed to study directly and to characterize the autoantibodies directed against this antigen. In cases of non immune hyperthyroidism the implication of activating mutations of the TSH receptor and of the a subunit of Gs has been described.
Milgrom
Edwin
E
Laboratoire d'Hormonologie et Biologie Moléculaire, Unité 135 de l'Inserm: Hormones, Gènes et Reproduction, Hôpital de Bicêtre, 78 rue du Général Leclerc-94275 Le Kremlin-Bicêtre.
D000818:Animals; D000918:Antibody Specificity; D001323:Autoantibodies / Q000276:immunology; D001327:Autoimmune Diseases / Q000276:immunology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006111:Graves Disease / Q000235:genetics / Q000276:immunology; D006801:Humans; D006980:Hyperthyroidism / Q000235:genetics / Q000503:physiopathology*; D051379:Mice; D009154:Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics / Q000276:immunology
D001323:Autoantibodies; D011989:Receptors, Thyrotropin; D019205:GTP-Binding Protein alpha Subunits, Gs