Unlocking hope: Scientists discover gene mutation that slashes Alzheimer’s risk

Apr 11, 2024
The revelation marks a pivotal moment in the quest for effective Alzheimer's treatments. Source: Getty Images.

In a remarkable leap forward in Alzheimer’s research, scientists have uncovered a genetic mutation that dramatically reduces the likelihood of developing the debilitating disease.

The newly identified “protective” variant resides within the FN1 gene, responsible for producing fibronectin, a crucial protein in brain health.

The revelation, detailed in the esteemed journal Acta Neuropathologica, marks a pivotal moment in the quest for effective Alzheimer’s treatments.

At the heart of this breakthrough lies fibronectin’s role within the blood-brain barrier, the brain’s guardian against harmful substances. Typically found in modest quantities, fibronectin takes on a significant role in wound healing and tissue repair.

However, individuals with Alzheimer’s exhibit elevated levels of fibronectin, hindering the brain’s ability to clear amyloid, a protein notorious for forming damaging plaques.

By analysing data from over 11,000 participants, scientists calculated that the FN1 mutation slashes Alzheimer’s risk among APOEe4 carriers by an astounding 71 per cent.

Furthermore, those who do develop the disease experience a delayed onset by approximately four years. The FN1 variant also extends its protective qualities to individuals with other forms of the APOE gene, broadening its potential impact.

Dr Richard Mayeux, the Gertrude H Sergievsky professor of Neurology, Psychiatry, and Epidemiology at Columbia University in New York City, envisions a future where therapies targeting fibronectin could revolutionise Alzheimer’s treatment.

“These results gave us the idea that a therapy targeting fibronectin and mimicking the protective variant could provide a strong defence against the disease in people,” Dr. Mayeux said.

“We may need to start clearing amyloid much earlier and we think that can be done through the bloodstream.

“That’s why we are excited about the discovery of this variant in fibronectin, which may be a good target for drug development.”

Echoing Dr. Mayeux’s optimism, Dr Caghan Kizil, an associate professor of neurological sciences at Columbia University Vagelos College of Physicians and Surgeons, emphasised the significance of reducing fibronectin levels in combating Alzheimer’s.

“There’s a significant difference in fibronectin levels in the blood-brain barrier between cognitively healthy individuals and those with Alzheimer’s disease, independent of their APOEe4 status,” Dr. Kizil said.

“Anything that reduces excess fibronectin should provide some protection, and a drug that does this could be a significant step forward in the fight against this debilitating condition.”

With each step closer to understanding and harnessing the protective powers of the FN1 mutation, the prospect of a breakthrough treatment grows ever brighter, offering renewed hope to those affected by this devastating condition.

-with PA.


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