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

Grant number: 11/17654-8
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): November 01, 2011
Effective date (End): October 31, 2013
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Ericka Barbosa Trarbach
Grantee:Isabella Pacetti Pajaro Grande
Home 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.

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