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 his 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.
“Is this something very specific to Doug’s genetic background and the experiences he’s had in life that might be unique to him and he just got incredibly lucky? Or is it something more mechanical, which we can identify and be able to say that this is the path that enabled you to resist it, although you have carried the traces of the disease for so long”, says Mr. McDade.
Scientists are collecting data on nearly 600 family members with multiple cases of Alzheimer’s. They were even the first to discover that Mr. Whitney was among those who escaped genetic fate.
Answers must be found one hour or more in advance. Mr Whitney’s son Brian has also inherited the family gene.
Brian has a daughter, who will also one day face the question of whether she should get her own genetic test.
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.
