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A rare gene mutant variant found to protect liver by chance

19-Nov-2020

Key points from article :

A rare genetic mutation found in French-Canadian families allows to stay healthy and live longer.

PCSK9Q152H, the mutation of PCSK9 gene protect against cardiovascular and liver diseases.

The mutated gene lowers LDL-cholesterol ('bad') and prevents cardiovascular diseases.

People carrying this gene mutation are surprisingly healthy in their late 80s and mid-90s.

In addition to their low risk of cardiovascular diseases, liver function is completely normal.

Researchers speculated that introducing the mutant into liver of mice would cause liver injury or dysfunction.

"To our amazement, overexpression of the mutant gene protected against ER stress-induced liver injury"- Paul Lebeau.

Scientists went on to show that the mutant variant increases their protective activity against liver damage.

Research by McMaster University and Montreal Clinical Research Institute published in Journal of Clinical Investigation.

Scientists found exciting benefits by inducing a gene mutation in mice

Mentioned in this article:

Academia

McMaster University, one of four Canadian universities listed among the Top 100 universities in the world

Academic

Research associate at EVERSANA

Journal

Monthly peer-reviewed medical journal covering biomedical research

Academia

Public research university in Montreal, Canada.