| Discovery of incapacitating genetic syndrome |
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| 05 décembre 2008 | |
MEDNIK Syndrome found in Quebec families sharing a common ancestorCanadian researchers have discovered the MEDNIK Syndrome, an incapacitating genetic condition, according to the latest edition of PLoS Genetics. Dr. Patrick Cossette, a professor Université de Montréal and scientist at the Université de Montréal Hospital Research Centre (CRCHUM), led a group of researchers who found the MEDNIK Syndrome is caused by a new mutation in the AP1S1 gene.  ''Disruption of the AP1S1 gene in humans may be associated with more widespread perturbation in the development of various organs, including the gut and the skin. These results suggest interesting avenues for both basic and clinical research to improve our understanding of the mechanisms underlying MEDNIK and related genetic neurocutaneous syndromes.” The study was conducted in collaboration with researchers from the Ontario Institute for Cancer Research, McGill University, the Université de Sherbrooke and the Centre hospitalier régional du Grand-Portage in Rivière-du-Loup. Using zebrafish as an animal model, they team observed that loss of the AP1S1 gene resulted in broad defects, including severe motor deficits due to impairment of spinal cord development. After inducing zebrafish with the human AP1S1 gene, instead of their native gene, the researchers discovered that the normal human type could rescue these developmental deficits but not the AP1S1 gene bearing the disease-related mutation. This research appears to be the first report of a mutation in human AP1S1. About AP1S1 gene in MEDNIK The AP1S1 gene encodes for a small subunit of an adaptor protein complex (AP-1) involved in the organisation and transport of many other proteins within the cell. Interference with these pathways could result in perturbation of cellular organisation and be detrimental for the development of specific cell subpopulations, as observed respectively in the skin and the spinal cord. Partners in research: This study was funded by the Canadian Genetic Disease Network, the Canadian Institutes of Health Research, the Fonds de la recherche en santé du Québec, Genome Canada and Genome Quebec. On the Web: To read the study About the CRCHUM About the CHUM About the Université de Montréal Source : Communications Department, CHUM Media contact: Nathalie Forgue Communications advisor, CHUM Telephone: 514-890-8000, Ext. 14342 Pager: 514-801-5762 |
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