'Escapees' of a rare genetic form of Alzheimer's are giving scientists an unprecedented opportunity to learn how the body may naturally resist the disease.
Doug Whitney inherited the same gene mutation that gave Alzheimer’s disease to his mother, brother and generations of other relatives by the unusually young age of 50.So did a woman in Colombia who dodged her own family’s similar Alzheimer’s destiny for nearly three decades.
“We are just learning about this approach to the disease,” said neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, who helped study the Colombian woman. “One person can actually change the world -- as in her case, how much we have learned from her.” “I guess that made me pretty special. And they started poking and prodding and doing extra testing on me,” the Port Orchard, Washington, man said. “I told them, you know, I’m here for whatever you need.”
That near certainty allows scientists to study these families and learn critical information about how Alzheimer’s forms. It’s now clear that silent changes occur in the brain at least two decades before the first symptoms — a potential window to intervene. Among the culprits, sticky amyloid starts building up, followed by neuron-killing tau tangles.
But not the way he’d hoped. In 2010, urged by a cousin, Whitney joined the St. Louis research. He also agreed to a genetic test he'd expected to provide final reassurance that his children wouldn’t face the same worry — only to learn he’d inherited the family mutation after all.While Brian inherited the family gene, his sister Karen didn’t — but she, too, is part of the same study, in the healthy comparison group.U.S. researchers aren’t the only ones on the trail of answers.
But remarkably, both copies of her APOE3 gene were altered by the rare “Christchurch” mutation — and researchers think that blocked toxic tau. Instead, maybe “we just need to block what’s downstream of it,” said Dr. Richard Hodes, director of the National Institute on Aging.
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