PMID- 20175455 OWN - NLM STAT- MEDLINE DCOM- 20100405 LR - 20190622 IS - 0065-2598 (Print) IS - 0065-2598 (Linking) VI - 668 DP - 2009 TI - The role of menin in parathyroid tumorigenesis. PG - 79-86 AB - 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. FAU - Davenport, Colin AU - Davenport C AD - Academic Department of Endocrinology, Beaumont Hospital and Royal College of Surgeons in Ireland Medical School, Beaumont Road, Dublin 9, Ireland. FAU - Agha, Amar AU - Agha A LA - eng PT - Journal Article PT - Review PL - United States TA - Adv Exp Med Biol JT - Advances in experimental medicine and biology JID - 0121103 RN - 0 (MEN1 protein, human) RN - 0 (Parathyroid Hormone) RN - 0 (Proto-Oncogene Proteins) RN - 0 (Smad Proteins) RN - 0 (Transforming Growth Factor beta) SB - IM MH - Humans MH - Hyperparathyroidism, Primary/genetics/*metabolism/physiopathology MH - Multiple Endocrine Neoplasia Type 1/genetics/metabolism/physiopathology MH - Mutation MH - Parathyroid Glands/metabolism/pathology MH - Parathyroid Hormone/metabolism MH - Parathyroid Neoplasms/*metabolism/physiopathology MH - Proto-Oncogene Proteins/genetics/*metabolism MH - Signal Transduction/physiology MH - Smad Proteins/metabolism MH - Transforming Growth Factor beta/metabolism RF - 26 EDAT- 2010/02/24 06:00 MHDA- 2010/04/07 06:00 CRDT- 2010/02/24 06:00 PHST- 2010/02/24 06:00 [entrez] PHST- 2010/02/24 06:00 [pubmed] PHST- 2010/04/07 06:00 [medline] AID - 10.1007/978-1-4419-1664-8_8 [doi] PST - ppublish SO - Adv Exp Med Biol. 2009;668:79-86. doi: 10.1007/978-1-4419-1664-8_8.