For one woman , later life was all but scripted . She had mutations in multiple genes predispose her to early - onrush Alzheimer ’s disease , and it was all but expected that she would arise the disease in her forty or 50s . rather , Aliria Rosa Piedrahita de Villegas , from Colombia , hold out healthily until her 70s with no sign of neurological disease – and scientists need to acknowledge why .

This brings us to the woman in inquiry who , despite bear all the hallmark of early - onset AD , looks like protected from it in some manner . scientist were follow this charwoman throughout her life history and recover her soundbox for an autopsy following her demise from cancer , in Bob Hope of understanding precisely what was keeping her encephalon healthy .

She carry a mutation in the risk gene PSEN1 , as well as two mutations in the gene APOE3 , also known as the Christchurch chromosomal mutation . These chromosomal mutation are hard implicated in the growing of advertising and evoke the risk by multiple factors – variants of PSEN1 are found in70 percent of early - onset advertizing , and APOE3 is one of the run peril cistron .

As expected , the PSEN1 mutation resulted in the growth of amyloid plaque , but they behaved other than in this pillow slip . Typically , amyloid plaques form bunch around important region of the wit involved in storage and cognitive processing , but in Aliria ’s mentality , they were n’t . or else , there were increased numbers tau tangles ( another hallmark of AD ) in her occipital lens cortex , which is responsible for visual processing , and her overall disease forward motion take issue from other PSEN1 aircraft carrier .

So , why was it that she was able to dodge AD for so many years ? The scientist continue timid , though they believe it to be something to do with the Christchurch mutant . According to a statement toBeing Patient , this was the only genetic trait they could unite the resiliency to . When they took animate being cells and modify the APOE3 cistron in a interchangeable style , they find it influenced how the tau maze were dispersed and stunt the patterned advance of the disease .

Now , they trust this unprecedented brain can help lead to Modern treatments against AD , which remains one of the greatest medical problems of New time .

The bailiwick was print in the journalSpringer Acta Neuropathologica .

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