"Using molecular biological techniques and DNA analysis, we were able to pin point a mutation in the TACO1 gene which encodes a translational activator important for the proper production of a protein called COX1. This study is also the first to identify a protein of this nature in humansX1 is a critical component of one of the enzymes in the energy production pathway in cells, and disruptions in COX1 production, lead to loss of enzyme activity and the symptoms in Leigh Syndrome."

Researchers in Dr. Shoubridge's lab at The Neuro were the first to discover the gene implicated in the most common form of Leigh syndrome and are now studying various forms of the disease. This includes the French-Canadian form common in the Saguenay-Lac St-Jean region of Quebec which is associated with a different genetic mutation, but the same biochemical defect, and similar presentation to the form investigated in this study. Neuro researchers are also collaborating on Le Grand Defi led by Pierre Lavoie, an initiative to raise awareness and funds for research into the disease.

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