Molecular investigation of PTEN and dream genes in patients with multi-nodular goiter

• Grant number: 11/12759-6
• Support Opportunities: Regular Research Grants
• Start date: October 01, 2011
• End date: September 30, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Ericka Barbosa Trarbach
• Grantee: Ericka Barbosa Trarbach
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated researchers: Antonio Marcondes Lerario ; Chin Jia Lin ; Lenine Garcia Brandão ; Suemi Marui

Abstract

Multinodular goiter (MNG) is defined as an enlargement of the thyroid gland that is characterized by heterogeneity in growth and function of thyroid follicular cells. It is a benign and very common disease. Constitutive activation of the phosphatidylinositol 3-kinase (PI3K) signal transduction pathway, including PTEN loss of expression, in follicular cells has been frequently involved in the cancer and goiter development in Cowden syndrome. Recently, was demonstrated that over expression of DREAM (downstream regulatory element antagonist modulator) provokes a marked enlargement of the thyroid gland in transgenic mice. Additionally, increased levels of DREAM protein were observed in human multinodular goiters, suggesting a novel etiopathogenic mechanism in nodular development in humans. The purpose of this project is to investigate the role of germinative mutations in PTEN and DREAM genes in etiology of MNG. The DREAM expression was also evaluate in patients with MNG. (AU)