High cholesterol gene turned off in tests on mice

A new technique developed by an all-Italian team has made it possible to 'switch off' the gene responsible for high cholesterol in mice without altering the DNA sequence and obtain a lasting result. Indeed, the effect lasted about a year - until the end of the experiment.
The study, published in the Nature journal, was led by Milan's San Raffaele Telethon Institute for Genetic Therapy, and the Eastern Piedmont University, the National Research Centre's Institute of Biomedical Technologies and the Milan San Raffaele Life-Health University also took part.

It was the first test of this technique's long-term effectiveness and it may also be useful for other illnesses. The researchers, coordinated by Angelo Lombardo, focused on the Pcsk9 gene, which is involved in the regulation of cholesterol levels in blood. Some variants of this gene cause familial hypercholesterolemia, a rare genetic disease characterized by a high risk of heart attack and stroke, even at a young age.

"The gene is more active than normal in some patients with this illness," explained Lombardo. "And this means that the liver cells are unable to efficiently capture the so-called 'bad' cholesterol, or LDL. The consequence is an increase in cholesterol levels".