BOSTON, Mass. — In 1993, researchers discovered one of the genes that seemed to predispose human development of Alzheimer’s Disease.
It’s called APOE-E4 — and it’s one of three possible apolipoprotein genes humans can have. The others, E3 and E2, are not thought to be triggers for Alzheimer’s.
Not everyone with APOE-E4 is destined to develop the disease, but it’s a gene that’s been the subject of several studies — most especially to learn how it contributes to Alzheimer’s development.
Now, researchers at the Boston University School of Medicine have found APOE-E4 seems to disrupt lipid or fat metabolism in the glial cells of the brain. That, in turn, leads to inflammation — and then to the amyloid plaques so characteristic of Alzheimer’s Disease.
Their research appears in the latest edition of the journal Cell.
“It’s a very common mutation in Alzheimer’s Disease,’ said study author Julia TCW, PhD, a professor and researcher at BU. “Fifty percent of people carry the APOE-E4 gene in the population and forty percent of Alzheimer’s patients have this gene.”
TCW said the research raises the possibility of interrupting the disease process early — by perhaps development of drugs or other therapies which can interfere with APOE-E4. That’s important, she said, because APOE-E4 is associated not only with early onset Alzheimer’s — but it also exacerbates the disease.
Currently, she pointed out, therapies are aimed at the end-stage symptoms of the disease — caused by the amyloid plaques.
“This study is really looking at the early stage of the disease,” she said. “So before we worry about the amyloid plaques we might tackle the really early stage — as soon as you can fix the lipid metabolism or inflammatory process.”
TCW said this is no less than an effort to ward off Alzheimer’s entirely.
“I think this research is very important,” said Nicole McGurin, Director of Programs and Services for the Alzheimer’s Association of Massachusetts. “We’ve all known that family history and genetics is a strong risk factor for Alzheimer’s Disease for a long time, and that’s a real cause for concern for people who know they have a family history of Alzheimer’s — the worry about getting Alzheimer’s Disease themselves.”
McGurin said any information that helps the Alzheimer’s community better understand the genetic component of the disease is helpful.
“I think if people can know that they’re at an increased risk, they can do more about the kind of lifestyle factors that they have control over to hopefully reduce their risk of developing Alzheimer’s, McGurin said.
And when it comes to those lifestyle choices — it seems that what’s good for the heart is also good for the brain.
“One of the promising areas of research is physical exercise,” McGurin said. “Diet is another area of a lot of study as well as looking at ways people can keep their brain active, keep themselves socially active, that can reduce their risk of Alzheimer’s Disease — even if they do have a family history of Alzheimer’s.”
Alzheimer’s Disease currently affects some 6.5 million Americans — and that is a number bound to grow, given age is the greatest risk factor for the disorder. In fact, the prevalence of Alzheimer’s is nearly seven times higher in those 85-plus than in those 65.
But beyond those actually afflicted with Alzheimer’s, are the millions of other family members deeply affected by watching loved ones fade away — even as they deal with their care.
“I think lots of families are very interested in what’s happening with science and Alzheimer’s Disease,” McGurin said. “I think they’re interested because they want to learn what they can do to reduce their risk. how much risk they’re at and they want to know when a cure is coming..”
For those looking for advice on how to cope with a diagnosis of Alzheimer’s Disease, the Alzheimer’s Association of Massachusetts/New Hampshire offers a 24/7 Hotline at 800-272-3900.
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