Interferon-gamma effect on splicing defects that cause chronic granulomatous disease linked to X chromosome. / Efeito do interferon-gamma sobre defeitos de "splicing" que levam à doença granulomatosa crônica ligada ao cromossomo X.

AUTOR(ES)
DATA DE PUBLICAÇÃO

2009

RESUMO

Phagocytes have a nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) associated to plasmatic membrane that generates superoxide and other oxygen reactive intermediates. Defects on this oxidase in humans result in a disorder called Chronic Granulomatous Disease (CGD). Mutations next to splicing sites that interfere with the mRNA processing leading to deletion of one or more exons, are even more frequent on scientific literature, in these cases, the molecular mechanisms causing CGD are not always completetly clear, as well as the effect of IFN-g on the mRNA processing or on the stability of transcripts. Based on this information our aim is to investigate the effect of IFN-g on the regulation of the human NADPH oxidase phagocyte system.. With the obtained results it wasnt possible to see an increase in anion superoxide production after the IFN-g treatment in patients with splicing defects, however it was detected an increase on the expression of CYBB gene by conventional and real-time PCR besides an increase in the marking of spliceossomal proteins by FAN.

ASSUNTO(S)

immunology x linked chronic granulomatous disease splicing ligado ao x doença granulomatosa crônica doenças imunológicas imunologia ifn-gama ifn-gama immunologic diseases interferons "splicing" interferons

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