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February 4, 2003

Researchers identify gene for rare disease found primarily in Quebec

An international team of researchers in Quebec, Boston, and at SickKids has identified the gene for Leigh syndrome French Canadian variant (LSFC), a genetic disease found primarily in the Saguenay-Lac St. Jean region in Quebec. This research is reported in the January 14 issue of the scientific journal Proceedings of the National Academy of Sciences.

LSFC is a paediatric disease impacted by low-energy production and problems with metabolism. Children with the disease suffer from developmental delay and poor movement coordination. More seriously, many children with LSFC suffer acute crises of lactic acid accumulation that can be fatal. The average expectancy for these children is five to six years of age. The disease is inherited in an autosomal recessive manner, meaning both the mother and father must be carriers of the defect.

The disease is rare worldwide, but in the Saguenay-Lac St. Jean region, LSCF is extremely common, with a carrier rate of one in 22 and the disease affecting one in 2,000 births. Dr. Brian Robinson, head of Metabolism Research at HSC, has been involved with the search, first for the biochemical basis, and then the gene, for 15 years.

"The identification of the gene is crucial to the accurate diagnosis and screening for LSFC, which up to this time has been done with great difficulty," says Robinson, who also holds a Tier 1 Canada Research Chair. "More importantly, the discovery has allowed us to start analyzing the protein involved in this condition, to figure out why this defect creates such devastating results."

This research was supported by grants from Association de L’acidose Lactique du Saguenay-Lac St-Jean, National Centres of Excellence for Genetics, Genome Quebec, Canadian Institutes for Health Research, a Howard Hughes Medical Institute Postdoctoral Fellowship, a grant from Affymetrix/Bristol Myers Squibb/Millennium Pharmaceuticals and The Hospital for Sick Children Foundation.


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The Hospital for Sick Children