A woman’s resistance to genetic, early-onset Alzheimer’s may hold the key to future therapies for the neurodegenerative disease.
There is, in Colombia, a family with the tragic legacy of forgetfulness. “People in this large family get Alzheimer’s like clockwork at age 45-50,” said MCDB professor Kenneth S. Kosik. Their aggressive, genetic form of the disease has been passed down from generation to generation, causing rapid cognitive and physical declines in both the men and the women of this family. For decades, Kosik and colleagues have been studying this family, from their brains right down to their genes. They have even traced the specific gene mutation of this disease back as far as the time of the Spanish conquistadors. During their studies the researchers also have witnessed the predictable onset of the disease as members of this family enter into their middle years. Sometimes it happens sooner, sometimes later, but all paths have always led to the same destination. But one woman has defied the odds. Now in her late 70s, she has the mutant gene — and the plaques of amyloid protein that are the hallmark of Alzheimer’s disease — yet she has exhibited no signs of cognitive impairment associated with Alzheimer’s. “When you find an escapee, it’s extremely interesting,” said Kosik, co-author of a study that appears in the journal Nature Medicine. The woman, and others who are considered outliers in the normal trend of neurodegeneration of this family, may present hints at a new approach for therapy for and even prevention of the disease, he said.