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Centre de recherche
Thursday, October 29 2009
Press release

A research team from Sainte-Justine University Hospital Center identifies an underlying cause in genetic neurological paediatric disorder which causes progressive neurodegeneration in infants

Montreal, October 29, 2009 - A research team from Sainte-Justine University Hospital Center has identified a protein misfolding as an underlying cause of Sanfilippo Disorder type C. a genetic neurological paediatric disorder.

This team is led by Dr. Alexey Pshezhetsky, researcher in Metabolic Health axis at Sainte-Justine and professor at the Department of Paediatrics, Université de Montréal.

Sanfilippo Disorder type C belonging to a group of diseases affecting the lysosome, a cellular compartment responsible for the degradation and recycling of large biological molecules, is caused by genetic defects in the enzyme, heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase, cloned in 2006 by Dr. Pshezhetsky and his colleagues. This disease, which usually manifests in the first years after birth, causes progressive neurodegeneration in infants and children, leading to mental retardation and often death before adulthood. Partial restoration of the deficient activity of N-acetyltransferase, even if modest, could help alleviate the disease symptoms or drastically slow the disease progression. Experiments using patients cells demonstrated that glucosamine could partially restore the protein folding defect and increase its activity.

These results, published in the recent issue of PLoS ONE (Matthew Feldhammer, Stéphanie Durand and Alexey V. Pshezhetsky Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C PLoS ONE, October 13th, 2009;http://dx.plos.org/10.1371/journal.pone.0007434), may provide future therapeutic solutions for this devastating untreatable disease.

Funding for this work was provided by March of Dimes Foundation, Sanfilippo Children’s Research Foundation and Canadian Institutes for Health Research.

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Notes

The Sainte-Justine University Hospital Center is the largest mother-child center in Canada and one of the four most important pediatric centers in North America. Sainte-Justine employs more than 4,000 people. Affiliated with the Université de Montréal, the CHU Sainte-Justine is by far the largest pediatric training center in Quebec and it plays a leading role in Canada. Its Research Center has 178 investigators and more than 400 students. It is a recognized leader in many fields including brain diseases, health outcomes, viral and immune disorders and cancers, metabolic health, fetomaternal and neonatal pathologies, musculoskeletal diseases and movement sciences. Sainte-Justine celebrated its centenary in 2007. This University Hospital Center is part of Université de Montréal’s extended network of excellence in health.

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