MARY LOUISE KELLY, HOST:
People who inherit two copies of a common gene variant are very likely to develop Alzheimer's disease. NPR's Jon Hamilton talked to three scientists who got tested and who are grappling with the results.
JON HAMILTON, BYLINE: The gene variant is called APOE4. Inheriting a single copy can triple your risk for Alzheimer's. Inheriting two copies - one from each parent - means you'll probably have symptoms before age 85. This very high-risk status applies to fewer than 3% of people in the U.S. One of them is June, a PhD biochemist who found out from an online genetic testing service.
JUNE: I was so distressed, and i - I've never felt so scared in my life.
HAMILTON: June asked to use only her first name. She fears making her genetic status public could affect her job or health insurance. At first, June spent hours online reading academic papers about Alzheimer's and genetics. Then she discovered online communities made up of people like her.
JUNE: I not only found useful information, I forged deep friendships.
HAMILTON: June learned about the brain benefits of a Mediterranean diet, exercise, sleep and stress reduction. And her online communities led her to a research project at the University of California San Diego. June enrolled in a four-month study there that had her playing a strenuous virtual reality game.
JUNE: You're riding a bike, and you go through unfamiliar terrain where you need to make turns. So you really have to use all your cognitive reserve.
HAMILTON: June says the study also involved a series of MRI scans and cognitive tests.
JUNE: I not only was able to watch my brain in action, I was able to develop really effective strategies of learning and retaining my memory.
HAMILTON: Lots of mental and physical activity might delay the symptoms of Alzheimer's, but David Watson, a neuropsychologist who runs the Alzheimer's Research and Treatment Center in Florida, says that's not enough for people with the APOE4 variant.
DAVID WATSON: Any of these things that we can do preventively, they're going to be helpful. But are they going to override genetics? No, they're not, unfortunately.
HAMILTON: Watson, who's in his mid-50s, learned that he carries two copies of the APOE4 gene about 25 years ago. He began running clinical trials of Alzheimer's drugs in hopes of finding one that might protect his brain. That work helped get two drugs on the market. Unfortunately, Watson is not a good candidate for either of them. The drugs are both monoclonal antibodies that remove sticky amyloid plaques from the brain. Watson says in people with his genetic profile, that often causes the brain to swell or bleed.
WATSON: If someone is APOE4/4, they probably should not go on a monoclonal antibody targeting amyloid or certainly, you know, very cautiously with additional counseling.
HAMILTON: So Watson has been focusing on an experimental drug that's meant specifically for people who are APOE4/4 - or homozygous. He says the pill which was tested at his center is designed to interrupt the process that leads to amyloid plaques.
WATSON: And this particular compound, which was targeted and designed and researched only on homozygote 4/4 patients, actually showed remarkable findings.
HAMILTON: The drug, made by Alzheon, did not cause brain swelling or bleeding, and it kept brain areas associated with memory from shrinking the way they usually do in Alzheimer's. But the drug did not clearly show it could slow down cognitive decline in people who already had Alzheimer's symptoms. Even so, researchers think it might still help a person without symptoms. Someone like Wendy Nelson.
WENDY NELSON: I would absolutely take the Alzheon pill tomorrow if I could get access.
HAMILTON: Nelson is a PhD scientist in the biotech industry who carries two copies of the APOE4 variant.
NELSON: I'm a triathlete. I just did the Pemi Loop in the White Mountains this weekend. I eat healthy.
HAMILTON: Nelson is 54 and has three daughters who carry a single copy of the APOE4 gene. So she jumped at the chance to meet with FDA officials who oversee Alzheimer's drugs.
NELSON: A couple weeks ago, I provided my seven minutes of testimony to the FDA, which was my plea for more options because I don't feel like I have anything out there right now.
HAMILTON: June, the biochemist, also testified. She says the experience was empowering.
JUNE: I realize that being APOE4/4 homozygous is not the end of the world. There are so many things we can do.
HAMILTON: Like making lifestyle changes, finding community and pushing the government to keep funding Alzheimer's research.
Jon Hamilton, NPR News.
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