International team uses genomic tools to discover gene for childhood geneti...( f that LRPPRC is responsible for LSFC ...)

f that LRPPRC is responsible for LSFC, the scientists sequenced the gene in two patients, one parent, and one unaffected individual and found a single DNA letter change in the gene that followed an autosomal recessive inheritance pattern. They then tested this in a larger population of patients and found that 21 out of 22 patients had two copies of the gene with this mutation and one patient had a copy with this mutation and a second copy with a different mutation. The identification of the two mutations in LRPPRC provided definitive genetic proof that this gene is responsible for LSFC.

What's Next?

The identification of the LRPPRC mutations will have immediate clinical implications for patients and their families in SLSJ region. "A diagnostic test that can detect carriers and provide improved prenatal diagnostic options will be a boon to the members of our community," says Pierre Lavoie, president of the Cytochrome c Oxidase Association of the Saguenay-Lac St Jean region, famous triathlete, and parent of children who died of the disease. "Without such a test, parents didn't know if they carried the defective gene until it was too late."

Scientists hope that the same strategy can work to identify the genes for the other diseases, including common diseases such as diabetes.

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Contact: Christine Zeindler
christine.zeindler@muhc.mcgill.ca
514-934-1934
McGill University
14-Jan-2003

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