The New York Times (5/15, Kolata) reports that researchers have discovered a genetic mutation in one patient that appears to delay Alzheimer’s disease from entering the patient’s entorhinal cortex, even though brain scans “revealed severe atrophying and…rough, hard, amyloid plaques and spaghetti-like tangles of tau proteins.” This particular “mutation results in a potent version of a protein, Reelin, in the entorhinal cortex,” and this “super-potent Reelin ultimately prevents tangled strands of tau proteins from sticking together and forming the structures that are a characteristic of Alzheimer’s.” The discovery has prompted researchers to investigate this as a potential target in developing the next generation of Alzheimer’s therapeutics. The findings of the research were published in Nature Medicine.
The Washington Post (5/15, A1, Johnson) reports that “this man is only the second patient identified with the miraculous ability to defy the devastating Alzheimer’s gene.” A previously known patient with a different mutation also had a brain “clogged with the characteristic amyloid plaques of Alzheimer’s, [but] it was relatively free of the tangles of tau that are also associated with the disease.” Investigators “did find an overlap between the two different gene mutations that helped protect these individuals: Both mutations affect proteins that bind to the same receptors on the surfaces of brain cells.”
Related Links:
— “Mutation Protected Man From Alzheimer’s Disease, Hinting at Treatment “Gina Kolata, The New York Times, May 15, 2023