Genes Protecting Against Alzheimer’s Disease Found in Woman with Rare Genetic Disorder

Julia St. Amand, Staff Writer

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Told that she would develop Alzheimer’s disease by the time she was 50, a woman with a rare genetic condition aged well into her seventies before showing sure signs of degeneration in her brain, despite having similar characteristics of the brain disease earlier in her 40’s.

This goes far back into her lineage, as thousands of her relatives throughout the generations have experienced this degeneration and eventually the cultivation of Alzheimer’s disease over time.

Eventually, they would decline in function from that point on until they died around the age of 60 when the disease progressed too far for available treatments to give any aid.

Oddly enough, this woman didn’t experience any decline in her mental capacities until her mid 70’s, and doctors are unsure why that is, though they are beginning to think they might have an answer as to how.

According to StatNews, this woman only developed a mild case of dementia by the time symptoms were noticeable in her later years, so somehow, she managed to escape the fate of developing early-onset Alzheimer’s. it turns out this woman had not one, but two rare genetic mutations.

The first being that she was naturally more predisposed to developing Alzheimer’s like her relatives, and the second being that she had a particular form of a gene that specialized in producing molecules that move cholesterol throughout the bloodstream.

Doctors conclude that the second mutation is a possible adaptation over time as her family grew and now prevents her from developing Alzheimer’s disease altogether.

This protected her as she was aging, and worked so well that she only developed that mild form of dementia at the ripe age range of the ’70s. compared to her relatives, that’s a pretty significant jump in quality of life, so doctors are surely intrigued and looking to find the reason behind

her semi-immunity to the disease. They hope to utilize her mutations to help develop future treatments and preventative measures for Alzheimer’s disease.

Dr. Michael Greicius of Stanford University School of Medicine refers to this mind-bending mystery as “an excellent and thought-provoking study, despite his not having been involved with the research directly.

He claimed this woman’s set of genes could be considered “exceedingly uncommon and possibly unique”, though it’s far from over when it comes to the research aspect of the case.

There is still much to be learned, and researchers look forward to the new opportunities this discovery has allowed them to encounter.

When looking at this woman’s brain, researchers noticed that she had developed a major neurological feature of Alzheimer’s disease without it actually being present, which had to do with the other mutation they found later on. The New York Times reports that the mutation which protected her from the disease drastically reduces the amount of a particular sugar molecule to a specific gene in her DNA.

The woman currently lives in Medellin, where the epicenter hosts her and her estimated 6,000 extended family members and ancestral records of Alzheimer’s disease through passing lineage.

IrishTimes refers to this woman’s gene mutation of Presenilin 1, which should have caused her to be a really high risk for developing degenerative disease.

Yakeel Quiroz, director of the familial neuroimaging lab at Massachusetts General Hospital in Boston, reported that this woman’s brain was actually functioning really well, especially compared to people around ages 40 and 50, despite not having more than one year of formal education or proper reading and writing skills.

Therefore, this new discovery could be a huge leap in developing improved treatments for Alzheimer’s and dementia in the future, though lots more research needs to be done before a treatment can be made or even begun.

IMAGE COURTESY OF THE GUARDIAN