Alzheimer's Fate Through An Exceptional Woman
Woman's Era|April 2021
A thought provoking ʻgenetic pedigreeʼ
Ram Sridhar

With reports from Science Alert / New York Times & Nature Medicine~~

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.

Scanning the brains and sequencing the genomes of 1,200 family members, the team has discovered a rare genetic quirk that could provide immunity to early-onset.

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