CLINICAL SPECTRUM AND MOLECULAR-GENETIC DEFECTS IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE

• Grant number: 11/16151-2
• Support Opportunities: Scholarships in Brazil - Master
• Start date: March 01, 2012
• End date: February 28, 2014
• Field of knowledge: Biological Sciences - Immunology - Immunogenetics
• Principal Investigator: Antonio Condino Neto
• Grantee: Nuria Bengala Zurro
• Host Institution: Instituto de Ciências Biomédicas (ICB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

The phagocytes contain a nicotinamida dinucleotide adenine phosphate (NADPH) oxidase associated to the membrane, which generates superoxide and other intermediate reagents of tumoricide and inflammatory the oxygen, which presents microbicide activity. Defects in this oxidase result in the chronic granulomatosa illness (DGC), whose clinical picture is characterized for the recurrence of serious infections, what it demonstrates the clinical relevance of this enzymatic system, as defense mechanism. We have as objective, at great length to analyze the clinical characteristics and biochemists of Brazilian and Latin American patients with DGC and its familiar ones, beyond investigating the genetic-molecular defects that had resulted in this illness. The clinical or phenotypic evaluation will consist of anamneses and physical examination of patients with diagnosis of DGC, followed of study biochemist. In this future stage of the project, we consider to initiate the genotypic study for the search of the defective component of the NADPH oxidase by means of RT-PCR and/or "Western Blot"; followed of analysis for chromatography of high performance in denaturants conditions (dHPLC) of gDNA, beyond direct sequencing of gDNA amplified. Patients with possible regulatory defects will be boarded individually. For the study of the gênica expression of the defective component, we consider the use of assay RT-PCR in real time; RT-PCR for studies of "splicing" and processing of the message, as the case. The considered studies intend to contribute for the advance of the knowledge on the mielomonocitic ancestry, in particular on the development, regulation and genetic-molecular defects of human system NADPH oxidase in the Latin American population, giving continuity to our line of research, beyond helping in the studies of other primary immunodeficiency diseases.

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

ZURRO, Nuria Bengala. Clinical spectrum and molecular genetic defects in patients with chronic granulomatous disease.. 2014. Master's Dissertation - Universidade de São Paulo (USP). Instituto de Ciências Biomédicas (ICB/SDI) São Paulo.