According to a recent article in NewsWise, researchers have discovered that families with the PCSK9 gene remain healthy through their eighties and nineties. The study has been published in the Journal of Clinical Investigation.
The two biologists at McMaster University who were co-leaders of the study were joined by study leader Michel Crétien, an endocrinologist from the Montreal Clinical Research Institute. Dr. Crétien points out that the gene has thus far only been found in several French-Canadian families.
A Gift That Keeps Giving
Although the PCSK9 mutation was initially thought to be a protection against cardiovascular disorders, it has recently been found to protect against liver disorders and other diseases.
In 2011, Dr. Chrétien was the first to locate a French-Canadian family who were carriers of the PCSK9 gene. Dr. Chrétien and a colleague then went on to identify two more French-Canadian families with the same mutation.
The mutation is mostly active in the liver. PCSK9 lowers plasma LDL-cholesterol and guards against cardiovascular diseases.
After a full medical evaluation plus imaging, the scientists found that the families carrying the PCSK9 gene were at low risk of cardiovascular disorders, had low LDL-cholesterol, and very normal liver function.
PCSK9’s Protective Effect
Dr. Chrétien explained that the next step involved developing a method of overexpressing the mutant gene in the liver. This could create a novel therapy for many diseases that often lead to premature death.
The team of researchers worked with mouse models that did not have the PCSK9 gene variant. Dr. Chrétien said the researchers expected that introducing the PCSK9 protein into the liver of mice would injure their liver or cause dysfunction.
On the contrary, they were surprised to find that overexpression of the gene variant actually had a protective effect. This would include people in their 80’s and 90’s.
Further, overexpression caused a reduction in circulating PCSK9 levels in the mice. This proves to be true in humans when bad cholesterol is lowered, the result is favorable cardiovascular health.
Dr. Austin, co-author of the study, added that the gene variant’s overexpression did not create stress in the endoplasmic reticulum (ER) but was protective against ER-induced injury to the liver. ER packages and secretes many products that the cell creates.
The scientists are looking forward to studying the potential of additional protection against cancer of the liver and other diseases beyond its protection against cardiovascular disorders.
