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How do some people escape the genetic inheritance of Alzheimer's disease?

2023-08-21 16:43:00, Shëndeti CNA

Scientists are studying why some people born with the genetic mutation linked to Alzheimer's never develop the disease. American researchers have focused on the genes of families where there are some cases of Alzheimer's, hoping to learn why the mutation does not affect all people who have it in their genetic code.

Doug Whitney inherited the same genetic mutation that gave Alzheimer's disease to his mother, brother and several generations of relatives, usually by age 50.

"My grandparents had 14 children. "Ten of them ended up with early onset Alzheimer's," says Mr. Whitney.

And yet, he is a healthy 73-year-old and his logic is still sharp. So he managed to escape his genetic fate.

This is something very rare. But then researchers discovered a woman in Colombia who escaped her family's fate of Alzheimer's for nearly three decades before dying of cancer.

Scientists think that these people who escaped the disease were not just lucky. They offer the rare opportunity to learn how the body can naturally resist Alzheimer's.

"It is often unique individuals who enable us to make discoveries", says Dr. Eric McDade, director of the University of Washington's Inherited Alzheimer's Network, where Mr. Whitney's DNA is being examined to find an answer.

The hope is that if scientists can discover and mimic what protects these people, then they can produce better cures, even preventative therapies, not just for families affected by inherited Alzheimer's, but for everyone. others.

Now scientists hope to compare data from even more survivors of inherited Alzheimer's, people who may have simply thought they didn't have their family's genetic mutation because they continued to be healthy long after they were. sick their relatives.

“A është kjo diçka tepër specifike për prejardhjen gjenetike të Doug-ut dhe për eksperiencat që ka patur në jetë, që mund të jenë unikale për të dhe ai thjesht pati fat të jashtëzakonshëm? Apo është diçka më mekanike, të cilën mund ta identifikojmë dhe të mund të themi se kjo është rruga që të mundësoi t’i rezistosh, megjithëse i ke mbartur gjurmët e sëmundjes prej kaq kohësh”, thotë zoti McDade.

Shkencëtarët po mbledhin të dhëna për gati 600 anëtarë familjesh me raste të shumta Alzheimeri. Ata madje ishin të parët që zbuluan se zoti Whitney ishte ndër personat që i shpëtoi fatit gjenetik.

Përgjigjet duhet të gjenden një orë e më parë. Brian, djali i zotit Whitney, gjithashtu ka të trashëguar genin e familjes.

Brian ka një vajzë, e cila do të përballet gjithashtu një ditë me pikëpyetjen nëse duhet të bëjë testin e saj gjenetik.

In order not to wait handcuffed and in the hope that he can escape like his father, Brian has volunteered for the testing of an experimental drug.

"I've woken up having nightmares that I might start to be symptomatic, and I've woken up crying because it's not just a bad dream... I'm doing this for my daughter. I have to do it for him. So my hope is that by the time she turns 18 and does her genetic test, that by then there will be an answer, that there will be hope for some kind of cure," says Brian./VOA