New genetic variant protects against Alzheimer’s disease

Columbia University researchers discovered new protective genetic variant what could reduce before 70% chance development of Alzheimer’s disease. As published in the study, this progress could lead to “new address” in therapy for imitate the effect of the gene.

Genetics and Alzheimer’s disease

Along with age and lifestyle, genetic maybevery important actor in the moment whether or not you will develop dementia like Alzheimer’s disease. There is a series genetic mutations what can they do to a person more inclined suffer from illness.

In particular, there is only 75 associated genes with a higher risk. People with two copies APOEe4 gene have 8-12 times more likely According to the Mayo Clinic, the development of this type of dementia.

However also There are people with APOEe4 elderly and cognitively healthy.

For this reason, this group of researchers from Colombia considered the possibility that there might be other genetic variants with the opposite effect that protect development cognitive impairment. Specifically, the team’s hypothesis was that APOEe4 carriers without dementia they could carry these mutations.

To test this, scientists sequenced the genomes hundreds of carriers gene, over 70 years oldwith and without Alzheimer’s disease, and diverse ethnic background.

They used data from patients participating in the Washington Heights/Inwood Aging Project in Columbia. This studio has been going on for over 30 yearsand was conducted by the Department of Neuroscience at Columbia University.

Fibronectin protector

A was identified protective option which is produced in the gene responsible for the synthesis of fibronectin, component blood-brain barrier. This is the cover surrounds blood vessels brain, and controls movement substances inside and outside brain.

According to researchers, between 1% and 3% carriers from APOEe4 In the United States, approximately 200,000 to 620,000 people may also be carriers of protective mutation which reduces fibronectin.

In addition to the Colombian team, more university groups from Stanford and Washington They repeated the study in an independent cohort of APOEe4 carriers.

“They found the same option fibronectin, which confirmed our discovery and even gave us more confidence in our results“, says co-leader of the study, Dr. Badri N. Vardarajan.

With him, Dr. Kagan Kizil, An assistant professor of neurology at Columbia University’s Vagelos College of Physicians and Surgeons also led the effort.

In a press release, he explained that fibronectin usually present in very small quantitiesbut what increases significantly in people with Alzheimer’s disease.

“It made us think that excess fibronectin could be prevention removal of amyloid deposits brain,” the doctor explained. This option revealed seems to protect against disease To prevent accumulation fibronectin in the blood-brain barrier.

Researchers confirmed this theory with a zebrafish model and additional studies in mice. They discovered that reduce fibronectin in animals increased amyloid removal And improved other damage dealt for this dementia.

New approaches and methods of treatment

Latest Treatment Methods Alzheimer’s disease directed directly to amyloid deposits. They are very effective when it comes to eliminating them through the immune system. However, simple elimination depositsor improves symptoms and do not repair other damage.

“Maybe we should start eliminate amyloid much earlier and we believe that it is possible through the bloodstream“adds Dr. Richard Mayeux, professor of neurology.

“That’s why we’re so happy opening this option fibronectin, which may be a good target for drug development“, he assured.

“Our results suggest that some of these changes occur in the brain’s vasculature and that we may be able to develop nnew types of therapy What mimic the protective effect of a gene For prevent or treat disease“, concludes Kagan Kizil.