CNN) — Anne Kolesar thought she had packed well for her biking trip last month in Pennsylvania’s “Grand Canyon,” with clothes for cold weather and snacks. But after driving about a hundred miles, she looked through her rearview mirror and realized: Oops, no bike!
Kolesar, 61, laughs heartily as she tells this story. But hovering over the incident is her knowledge that she has an elevated genetic risk of Alzheimer’s disease.
“I do feel like there’s this sword, sort of hanging over my head, that might drop, and I don’t know when,” said Kolesar, who splits her time between Pittsburgh and Indiana, Pennsylvania. ” And I’m not sure how you know.”
It’s not just that she watched her father’s mental faculties deteriorate over the past 20 years or that her aunt and grandmother also succumbed to the disease. Kolesar participated in a clinical trial that revealed to her that she has one copy of the APOE-4 genetic variant. This gene has been linked to up to 25% of Alzheimer’s cases, according to the Alzheimer’s Association.
Screening for forms of APOE isn’t part of routine medical practice. But Kolesar was curious about her risk, so she volunteered to participate in a research study that tested participants for APOE variants.
Alzheimer’s disease has no cure or effective long-term treatment. Many drug trials have failed to show lasting delays or reversals of symptoms in people who already have dementia.
That’s why scientists are exploring what signatures Alzheimer’s disease might create in the body before symptoms ever begin. Besides genes such as APOE-4, they are looking at proteins associated with plaques and tangles in the brain.
The hope is that understanding both risk factors and the timing of the development of disease pathologies will lead to successful treatments in people who haven’t begun to show any impairments in memory or thinking.
The Alois Alzheimer Foundation 