Scientists studying a Colombian family plagued by early-in-life Alzheimer’s have found a rare gene variant that seems to delay initial symptoms by about five years
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 finding points to novel ways of fighting the mind-robbing disease – if researchers can unravel how a single copy of that very rare gene variant offers at least a little protection.
“It opens new avenues,” said neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, who helped lead the study published Wednesday. “There are definitely opportunities to copy or mimic the effects.”
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.
The big clue: She also harbored something incredibly rare, two copies of an unrelated gene named APOE3 that had a mutation dubbed Christchurch. That odd gene pair appeared to shield her, staving off her genetic predisposition for Alzheimer’s.
