Discovery of a genetic variant reduces the risk of “a disease for which there is no cure”

United States – A team of scientists at Columbia University has identified a genetic variant that might reduce the risk of developing Alzheimer’s by up to 70%, opening promising horizons for developing preventive drugs for the disease.

US scientists have found that the genetic variant allows disease-causing proteins to pass out of the brain instead of clumping together.

“Our findings suggest that some of these changes occur in the blood vessels in the brain,” said Dr. Kagan Kiesel, from Columbia University. “We may be able to develop new types of treatments that mimic the protective effect of the gene to prevent or treat disease.”

Alzheimer’s disease is known as the most common form of the condition, and is thought to be caused by a buildup of proteins in the brain, including tau and amyloid.

There is currently no cure for this disease, although promising drugs to slow its progression are currently under trial.

The study, published in the journal Acta Neuropathologica, looked at the genes of people who were at high risk of developing Alzheimer’s disease but did not have symptoms to see what protected them.

The scientists looked at data from 11,000 people, including those who inherited the e4 form of the APOE gene, which greatly increases their risk of developing the disease.

They found a genetic variant that affects fibronectin, a substance found in the blood-brain barrier, which controls what can enter and exit the organ.

This variant helps prevent too much fibronectin from accumulating, allowing amyloid proteins to escape and less likely to cause Alzheimer’s disease.

A protective genetic variant in the fibronectin gene reduces the risk of Alzheimer’s disease by 71% in APOEe4 carriers and may delay the onset of the disease.

Dr. Badri Vardagan, from Columbia University, said that those who have the variant identified in this study “can tell us a lot regarding the disease and what genetic and non-genetic factors may provide protection.”

Dr. Kiesel added: “Alzheimer’s disease may begin with amyloid deposits in the brain, but the manifestations of the disease are the result of changes that occur following the deposits appear. We may need to start removing the amyloid very early, and we believe this can be done through the bloodstream. “This is why we are excited to discover this variant in fibronectin, which may be a good target for drug development.”

Source: The Sun