Turkish scientist: “We have identified a genetic variation that reduces Alzheimer’s risk by 71% in humans”

Neuroscientist Assoc. Prof. Dr. Çağhan Kızıl from Columbia University’s Taub Institute has announced that they have identified a genetic variation that reduces the risk of Alzheimer’s by 71% in humans and have elucidated the mechanism behind this variation.

Starting his statement with “I would like to share very exciting news,” Kızıl stated in his announcement on X (formerly Twitter) that the finding could protect millions of people from the disease and offer new avenues for prevention and treatment of Alzheimer’s.

This study, supported by the National Institutes of Health (NIH), the Carol-Gene Ludwig Foundation, and the Alzheimer’s Association of the USA, among other institutions including Columbia University, Stanford, Yale, and the Mayo Clinic, stands out for demonstrating the existence of a genetic factor that could prevent the disease.

Kızıl summarized their research as follows: “APOE is a protein that carries fat in the blood and tissues. A specific version of this protein, called APOEe4, is a genetic factor that increases the risk of Alzheimer’s disease. Particularly in individuals carrying the APOEe4 allele, the disease can manifest much earlier and more severely compared to non-carriers. However, not every APOEe4 carrier develops Alzheimer’s, indicating significant influence of other genetic and environmental factors on the disease. However, how this resistance against Alzheimer’s occurs was not fully understood. In our study, we discovered that a change in a gene encoding a protein called Fibronectin significantly reduces the risk of developing Alzheimer’s.”

Kızıl continued his statement: “Fibronectin is a part of the protective layer around the blood-brain barrier. Normally, in Alzheimer’s patients, excessive fibronectin accumulates in this barrier and contributes to the progression of the disease. However, the genetic variation we discovered prevents this excessive accumulation, thus protecting brain cells. At the core of this protection lies the clearance of harmful substances accumulated in the brain during Alzheimer’s. When there is too much fibronectin, effective clearance cannot occur, but with the protective variation, this clearance takes place, thereby preserving the brain in Alzheimer’s conditions.”

Kızıl stated that they conducted clinical studies on tens of thousands of individuals from different ethnic groups and analyzed their genome sequences. He also mentioned that they worked with zebrafish models of Alzheimer’s to experimentally test their findings. He stated that experiments on zebrafish models demonstrated how the level of fibronectin facilitates the clearance of amyloid plaques that cause Alzheimer’s.

Stating that “These findings could initiate a new era in Alzheimer’s disease research and improve the quality of life for millions of people,” Kızıl continued, “Our research presents an example of the importance of genetic science in understanding and treating diseases. This discovery could lead to the development of new drugs for treating Alzheimer’s.”