Xminus Chronic Granulomatous Disease Variants, Powerful Models to Study the Cytochrome b558 Synthesis Process in Neutrophils.
Marie-José Stasia and Marie-Claire Dagher. CDiReC, TIMC/IMAG, UMR CNRS 5525, Université Joseph Fourier, Grenoble, France. £25,000 over one year.
This basic research project will study mutations in a rare form of CGD, collectively known as Xminus CGD variants. These patients have defects in gp91phox that leads to them having only partial or no oxidase activity to fight infections. The research looking at the structural and functional effects of these mutations will be done at a centre in Grenoble that is dedicated to functional molecular diagnosis and research on CGD (www-sante.ujf-grenoble.fr/CGD/).
Dr Stasia who heads the project explains, ‘We know of 27 patients with this type of variant CGD. Studying the mutations in this group is important because it gives information on how the different parts of the oxidase enzyme work together. We want to find out what the effect of some of these mutations is on the synthesis of gp91phox and how gp91phox interacts with another important oxidase enzyme component, p22phox. Identifying the novel interactions required for oxidase function may help towards understanding the variability of clinical severity of individual patients and will help define essential gp91phox protein requirements that could be important in developing possible future therapies.’
IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
© 2001-2007 The Chronic Granulomatous Disorder (CGD) Research Trust
Registered Charity No. 1003425 email:cgd@cgdrt.co.uk
The CGD Research Trust is a member of the Association of Medical Research Charities (AMRC), the Genetic Interest Group (GiG) and an associate member of the International Patient Organisation of Primary Immunodeficiencies (IPOPI)
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