Table of Contents Author Guidelines Submit a Manuscript
Genetics Research International
Volume 2011 (2011), Article ID 275802, 7 pages
http://dx.doi.org/10.4061/2011/275802
Review Article

Molecular Alterations in Sporadic Primary Hyperparathyroidism

1Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), 4200-465 Porto, Portugal
2Faculty of Engineering of the University of Porto (FEUP), 4200-465 Porto, Portugal
3Abel Salazar Biomedical Sciences Institute, University of Porto, 4099-003 Porto, Portugal
4Faculty of Medicine, University of Porto (FMUP), 4200-319 Porto, Portugal
5Cancer Biology Group, IPATIMUP, Rua Dr. Roberto Frias, s/n, 4200-465 Porto, Portugal

Received 15 April 2011; Revised 3 July 2011; Accepted 11 July 2011

Academic Editor: Ilana Zalcberg Renault

Copyright © 2011 Maria Inês Alvelos et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Primary hyperparathyroidism (PHPT) is a frequent endocrine disorder characterized by an excessive autonomous production and release of parathyroid hormone (PTH) by the parathyroid glands. This endocrinopathy may result from the development of a benign lesion (adenoma or hyperplasia) or from a carcinoma. Most of the PHPT cases occur sporadically; however, approximately 10% of the patients present a familial form of the disease. The molecular mechanisms underlying the pathogenesis of sporadic PHPT are incompletely understood, even though somatic alterations in MEN1 gene and CCND1 protein overexpression are frequently observed. The MEN1 gene is mutated in about 30% of the parathyroid tumours and the protooncogene CCND1 is implicated in parathyroid neoplasia by rearrangements, leading to an overexpression of CCND1 protein in parathyroid cells. The aim of this work is to briefly update the molecular alterations underlying sporadic primary hyperparathyroidism.