In this undated photo provided by Massachusetts General Hospital, Dr. Francisco Lopera, left, of the University of Antioquia, a neurologist who has spent decades caring for a large Colombian family plagued by early-in-life Alzheimer’s, confers with fellow researcher Yakeel Quiroz of Massachusetts General Hospital. WASHINGTON — Scientists studying a family plagued by early-in-life Alzheimer’s found some carry a genetic oddity that delays their initial symptoms by five years.
The first hint of this genetic protection came a few years ago. Researchers were studying a huge family in Colombia that shares a devastating inherited form of Alzheimer’s when they discovered one woman who escaped her genetic fate. Aliria Piedrahita de Villegas should have developed Alzheimer’s symptoms in her 40s but instead made it to her 70s before suffering even mild cognitive trouble.
But would one copy be enough to offer any protection? Those Christchurch carriers on average showed their first signs of cognitive trouble at age 52, five years later than their relatives, concluded a collaboration that includes Mass General Brigham researchers and Colombia’s University of Antioquia.
Already some very early work is beginning to explore if certain treatments might induce the protective mutation, he added.
Gene Variant Christchurch APOE3 Colombian Family Cognitive Trouble Genetic Protection
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