[ENT] French-Canadians: study reveals genetic mutation against diseases

Researchers in Montreal and Ontario have discovered a genetic mutation that protects against disease in a handful of French-Canadian families.

The study published in the “Journal of Clinical Investigation” builds on previous work on the PCSK9 gene mutation that lowers bad cholesterol and protects against cardiovascular disease.

The mutation was discovered in a French-Canadian family in 2011 by Dr. Michel Chrétien, professor emeritus at the University of Montreal.

The researchers concluded that this mutation may also protect against other diseases, including liver disease. But not everyone is the carrier of this mutation that helps them stay healthy and have an increased life expectancy.

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“These are the results that excite us, because this discovery is like a fountain of youth,” Richard Austin, professor of medicine at McMaster University and co-author of the study, said in a statement Thursday.

Research results should confirm whether or not this genetic mutation has an additional protective effect against other diseases besides cardiovascular disease.

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“These results from Richard Austin’s group are particularly gratifying, as they demonstrate why this gene mutation protects against liver damage and dysfunction, even in individuals over the age of 80 and 90,” explained Dr. Chrétien.

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