Deletions screening of VHL, SDHB, SDHC and SDHD genes using MLPA technique in patients with idiopathic sporadic pheochromocytoma

• Grant number: 11/17654-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: November 01, 2011
• End date: October 31, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Ericka Barbosa Trarbach
• Grantee: Isabella Pacetti Pajaro Grande
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Pheochromocytomas (PHEOs) are neuroendocrine catecholamine-producing tumors that shown hypertension as the most common medical complication. Usually, PHEOS are sporadic and about 30% of these tumors harbor germinative mutations in genes like RET, VHL, SDHB, SDHC e SDHD. The von Hippel-Lindau disease is caused by mutations in VHL gene. The proteins codified by SDHB, SDHC e SDHD genes are members of the mitochondrial electron transport chain. This study aimed to screen intragenic deletions in VHL, SDHB, SDHC and SDHD genes in patients with PHEOS, or also parangliomas, sporadic without a defined genetic etiology. For this multiplex ligationt-dependent probe amplification (MLPA) technique will be employed. Identification of a gene mutation may lead to early diagnosis and treatment, regular surveillance, and a better prognosis for patients and their relatives.