The role of menin in parathyroid tumorigenesis

Abstract

Primary hyperparathyroidism is a common disorder that involves thepathological enlargement of one or moreparathyroid glandsresulting in excessive productionof parathyroidhormone (PTH).The exact pathogenesis of this disease remains to be fullyunderstood.In recentyears interesthas focussed on the interaction between menin protein and the transforming growthfactor (TGF)-β/Smad signalling pathway.In vitroexperimentation hasdemonstratedthat the presence of meninisrequiredfor TGF-β to effectively inhibit parathyroid cellproliferation andPTH production. This observation correlates with the almost universal occurrence of parathyroid tumors accompanying the in activation of menin in multiple endocrine neoplasia Type1(MEN 1) syndrome and the high rate of somatic menin gene mutations seen in sporadic parathyroid adenomas. This chapter aims to review the roleof menin in primary hyperparathyroidism and parathyroid hormone-regulation, including the influences of MEN1 gene mutationson parathyroid cell proliferation, differentiation and tumorigenesis. © 2009 Landes Bioscience and Springer Science+Business Media.