title: The role of menin in parathyroid tumorigenesis.
abstract: Primary hyperparathyroidism is a common disorder that involves the pathological enlargement of one or more parathyroid glands resulting in excessive production of parathyroid hormone (PTH). The exact pathogenesis of this disease remains to be fully understood. In recent years interest has focussed on the interaction between menin protein and the transforming growth factor (TGF)-beta/Smad signalling pathway. In vitro experimentation has demonstrated that the presence of menin is required for TGF-beta to effectively inhibit parathyroid cell proliferation and PTH production. This observation correlates with the almost universal occurrence of parathyroid tumors accompanying the inactivation of menin in multiple endocrine neoplasia Type 1 (MEN1) syndrome and the high rate of somatic menin gene mutations seen in sporadic parathyroid adenomas. This chapter aims to review the role of menin in primary hyperparathyroidism and parathyroid hormone-regulation, including the influences of MEN1 gene mutations on parathyroid cell proliferation, differentiation and tumorigenesis.
authors.affiliation: Academic Department of Endocrinology, Beaumont Hospital and Royal College of Surgeons in Ireland Medical School, Beaumont Road, Dublin 9, Ireland.
authors.forename: Colin
authors.initials: C
authors.lastname: Davenport
authors.forename: Amar
authors.initials: A
authors.lastname: Agha
mesh_terms: D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D010280:Parathyroid Glands / Q000378:metabolism / Q000473:pathology; D010281:Parathyroid Hormone / Q000378:metabolism; D010282:Parathyroid Neoplasms / Q000378:metabolism* / Q000503:physiopathology; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction / Q000502:physiology; D051785:Smad Proteins / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000378:metabolism
chemical_list: C105373:MEN1 protein, human; D010281:Parathyroid Hormone; D011518:Proto-Oncogene Proteins; D051785:Smad Proteins; D016212:Transforming Growth Factor beta