Saturday, May 20, 2023

Mutation Protected Man From Alzheimer’s Disease, Hinting at Treatment

AlzheimersTests showed that a man had a gene mutation that guaranteed Alzheimer’s disease to impact him in his early 40s. Scans show atrophying and other hallmarks of the disease, such as plaques and tangles of tau proteins. However, he did not experience symptoms of the disease until he was 67. He is now central to a paper published in the journal Nature Medicine earlier this month.

An intense research effort is dedicated to discovering why this man did not develop the fatal disease. Experts believe this is due to the mutation of a different gene that blocked the condition from entering his entorhinal cortex.

More than six million people in the United States have Alzheimer’s. If a drug could replicate what the gene mutation in the man was able to do, it may be possible to stave off the disease. 

“This really holds the secret to the next generation of therapeutics,” said Dr. Joseph F. Arboleda-Velasquez, a cell biologist at Massachusetts Eye and Ear in Boston, Massachusetts. 

A woman was identified by the same research group who was also protected from Alzehimer’s by a gene mutation, albeit a different gene. Instead of lacking plaque and tau in just a tiny portion of her brain, it was absent entirely. These two gene mutations observed in the man and woman suggest a new way to treat Alzheimer’s.

For more information see Gina Kolata “Mutation Protect Man From Alzheimer’s Disease, Hinting at Treatment” The New York Times, May 15, 2023.

Special thanks to Lewis Saret (Attorney, Washington, D.C.) for bringing this article to my attention.

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