As she turned 50 years old, Julie Gregory began experiencing symptoms of cognitive decline. They weren’t severe and she initially attributed them to middle age or her lifestyle. Then Gregory decided to learn more about her genetic makeup and had her DNA analyzed by a commercial company.
When the results came back, she was staggered. They showed she carried two copies of apolipoprotein E4, or ApoE4, a variation of the gene that is associated with heart disease and an increased risk of cognitive degeneration and Alzheimer’s disease. Carrying the gene does not mean she will definitely develop Alzheimer’s, but studies suggest that 91 percent of those with two copies of it do, on average at age 68.
“It was pretty scary news,” Gregory, now 55, said. “I’ve since learned that there’s a lot of dementia in my family.”
Less than two percent of the population carries two copies of the ApoE4 gene. Doing so requires both parents to pass down a copy of the gene. Meanwhile, about one in four people inherit one copy of the gene, which doubles or triples their risk of developing Alzheimer’s disease.
Rather than run away from the finding, Gregory, a marriage and family therapist in the Chicago area, sought a new challenge. She founded an online forum called ApoE4 Info that serves as a clearinghouse for discussion of new research into genetic aspects of Alzheimer’s and supports people who are grappling with the ramifications of learning their ApoE4 status.
Today the forum has more than 800 members, many of whom have already undergone testing to learn whether they carry the gene. Gregory is the group’s president, one of 11 volunteer officers. Some members haven’t been tested and are still considering whether knowing their status would help them to modify their risk or cause them unnecessary depression and anxiety about a fate they cannot control, Gregory said.
“We have some members who say they want to know everything,” she said. “And we have some members who went straight to their psychiatrist’s office with post-traumatic stress disorder after hearing the news. Alzheimer’s is progressive, incurable, untreatable and fatal.”
Alzheimer’s afflicts more than five million people in the U.S., according to the Alzheimer’s Association, and more than 46 million worldwide at an annual cost of more than $800 billion, according to Alzheimer’s Disease International. It destroys a person’s memory and their capacity to think and reason. Its onset is gradual and mild symptoms can occur a decade or more before it is diagnosed. The number of people suffering from it is expected to nearly triple by 2050, as life expectancies rise further in lower-middle- and low-income countries.
Gregory said she found that information available to people who learn that their genetic status predisposes them to Alzheimer’s could be confusing or inaccessible.
“There’s still so much we don’t know,” Gregory said. “There’s lots of debate and controversy and mixed messages.”
Many published studies aren’t definitive because scientific evidence is often amassed incrementally, study conclusions may contradict previously accepted knowledge and some laypeople and professionals don’t know how to interpret the significance of risk estimates. This lack of consensus extends to frontline doctors, Gregory added.
“The experience the vast majority of our members have is they go to their physicians and say, ‘I carry two copies of this gene, what should I do?’ and they [the doctors] say ‘What gene?”’ Gregory said.
She founded Apoe4 Info to help people learn as much as possible about the genetic variant. The non-profit group works with researchers around the world, discusses and debates newly published papers with them online and takes part in tests of biomarkers, biological characteristics that may explain why some people develop Alzheimer’s while others do not.
Since Alzheimer’s has no cure and medications approved for the market are only effective at managing symptoms in the disease’s early stages, Gregory said that many of the forum’s members are very eager to learn about what may prevent or delay its development. Since the ApoE4 gene also heralds heightened susceptibility to high cholesterol, a factor in some types of heart disease, keeping track of their blood chemistry is often a starting point.
Monitoring blood sugar levels, markers of inflammation, vitamin levels, body-mass index and blood pressure – and keeping these within healthy ranges – may protect against development of Alzheimer’s if early research findings are ultimately replicated and proven valid in the coming years, Gregory said. Other studies suggest that improving sleep patterns, stress levels, exercise or social engagement may also protect some people against the disease. But more research is needed to establish those claims.
One day genetic tests may become routine, and be conducted on children, newborns or in the womb for a variety of conditions. Gregory says she believes that no one is ever too young to become aware of their ApoE4 status and that parents might want to know if their young children carry the gene — in the hope that they may be able to reduce their risk.
Gregory doesn’t know what the future holds for her, but she doesn’t regret learning that she has two copies of ApoE4 and, consequently, a higher risk of Alzheimer’s disease.
“It was a huge tipping point in my life,” she says. “Now I know I have to be healthy.”