Alzheimer's

EnolaGaia

I knew the job was dangerous when I took it ...
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#31
There's a Colombian family that suffers an almost total susceptibility to Alzheimer's owing to a known genetic mutation, which is involved in a minor subset of all Alzheimer's cases. One woman in the family, however, managed to make it circa 3 decades longer than anyone else before showing signs of cognitive decline. It now seems this was due to her personal genetic mutation, and this might provide clues to how the malady operates.
Scientists Find Exceptional Woman Who Has Somehow Avoided Her Family's Alzheimer's Fate

Among the world's largest family to suffer from Alzheimer's, one older woman may hold the key to future prevention.

For generations, thousands of her relatives in the city of Medellín, Colombia, have been plagued by a genetic mutation (known as E280A) that leads to early onset dementia – what locals call "La Bobera", or "the foolishness".

This particular genetic quirk only impacts a small subset of Alzheimer's patients, many of whom live in this one city, and it almost always leads to cognitive decline, beginning as early as age 44.

For decades, neurologists have been fascinated by this mutation and the family that carries it. But of the 6,000 or so living members in this large extended clan, there's one individual who stands out.

Despite having the same genetic risk as many of her relatives and a brain filled with hallmark signs of Alzheimer's, this woman's memory has remained remarkably resilient.

In fact, neurologists say this lady did not show any signs of cognitive decline until she reached her 70s, which is three decades later than expected.

Now, researchers think they've figured out why, and it might have to do with another chance mutation. ...
FULL STORY: https://www.sciencealert.com/except...-colombian-woman-fated-to-develop-alzheimer-s
 
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