[Molecular aspects of the etiopathogenesis of the parathyroid gland diseases].
Current views on the molecular aspects of familial parathyroid gland diseases have been presented (familial primary hyperparathyroidism, hypoparathyroidism and psuedohypoparathyroidism). Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Lacka
Katarzyna
K
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznań. K_Lacka@wp.pl
D002864:Chromogranins; D019205:GTP-Binding Protein alpha Subunits, Gs; D020022:Genetic Predisposition to Disease; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007011:Hypoparathyroidism / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D044169:Receptors, Calcium-Sensing; D025521:Tumor Suppressor Proteins
C095550:CASR protein, human; C454900:CDC73 protein, human; D002864:Chromogranins; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D025521:Tumor Suppressor Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs