Molecular Alterations in Sporadic Primary Hyperparathyroidism

• Published in: Genetics Research International 2011-01, Vol.2011 (2011), p.40-46
• Main Authors: Alvelos, Maria Inês, Mendes, Maria, Soares, Paula
• Format: Article
• Language: English
• Subjects: Review
• ISSN: 2090-3154; 2090-3162; 2090-3162
• DOI: 10.4061/2011/275802

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.