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Writer's pictureNatasha Bhatt

Genetic Variant Leading To Lower Risks Of Alzheimer's Risk by 70%

Updated: May 11

by Natasha Bhatt / May 4, 2024


Recent findings from Columbia University unveiled a potentially significant discovery: a genetic variant that might significantly reduce the risk of Alzheimers by 70%.  Alzheimer’s disease is a neurological disorder that has long eluded medical intervention.


Their study revealed a gene responsible for producing too much fibronectin that is effective  for blood-brain barriers as well as helping regular substances pass in and out of the brain, however only in moderate levels. Excessive fibronectin accumulation is linked with Alzheimer's disease. "It’s a classic case of too much of a good thing,” Kizil writes in the Columbia Research.  


Furthermore, Kizil states that “It made [them] think that excess fibronectin could be preventing the clearance of amyloid deposits from the brain.”Amyloid is a characteristic of Alzheimer’s disease. This was then proved by the theory in the  zebrafish model of Alzeihmers and continuing experiments on mice. These experiments and models, in addition, helped them discover that decreasing fibronectin in the rats alleviated other Alzheimer’s disease related damage and enhanced amyloid clearance.  Nonetheless, a fibronectin gene variation provides protection against Alzheimer's by preventing the buildup of extra fibronectin at the barrier . It prevents the buildup of fibronectin and overall too much blood brain barrier. And by having moderate levels of fibronectin, it aids in clearing toxic amyloid from the brain and reducing the disease. 


The research furthermore highlights the resilient individuals. They found a protective variant in people who have never developed any symptoms with the disease, however they inherit the  e4 type of the APOE gene, which raises the chance of Alzheimer's disease in that individual. To find the protective variant within individuals, researchers at Columbia University sequenced the genomes of APOEe4 carriers who were older than 70, both with and without the disease. They discovered a variation of fibronectin. Their results were then strengthened when the study was independently replicated by a different team.


Ultimately, while this research still continues, it has unraveled many significant findings to reduce Alzheimer's disease. Furthermore, offering hope to  millions of people are affected with this disease.



Citations:


Newly found genetic variant defends against alzheimer’s disease. Columbia University Irving Medical Center. (2024, April 10). https://www.cuimc.columbia.edu/news/newly-found-genetic-variant-defends-against-alzheimers-disease#:~:text=Columbia%20researchers%20have%20discovered%20a,United%20States%20from%20the%20disease.

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