title: Molecular genetics of hyperparathyroid disease.
abstract: Information on genetic abnormalities in primary hyperparathyroidism has accumulated gradually. Genetic alterations responsible for tumorigenesis have been identified in multiple endocrine neoplasia types 1 and 2. Point mutations in a calcium-sensing receptor gene were recently found to be responsible for familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Evidence has been provided that abnormalities of cell cycle regulation participate at tumorigenesis in parathyroid adenoma and carcinoma. Clonal analysis has shown that in renal hyperparathyroidism the parathyroid glands initially grow diffusely and polyclonally, after which foci of nodular hyperplasia are transformed to monoclonal neoplasia. Somatic changes of specific genes have been suspected of being responsible for parathyroid tumorigenesis in renal hyperparathyroidism. However, the genetic loci responsible for the frequent monoclonality largely remain to be identified, and heterogeneous genetic abnormalities may contribute to the progression of secondary parathyroid hyperplasia.
authors.affiliation: Department of Transplant Surgery, Nagoya 2nd Red Cross Hospital, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tominaga
authors.forename: H
authors.initials: H
authors.lastname: Takagi
mesh_terms: D000236:Adenoma / Q000235:genetics / Q000473:pathology; D000818:Animals; D002277:Carcinoma / Q000235:genetics / Q000473:pathology; D002453:Cell Cycle / Q000235:genetics; D002874:Chromosome Mapping; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics; D006961:Hyperparathyroidism / Q000209:etiology / Q000235:genetics*; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000150:complications / Q000503:physiopathology; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D010280:Parathyroid Glands / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000235:genetics / Q000473:pathology; D017354:Point Mutation