Scientists studying a family with early Alzheimer’s have found that some carry a genetic mutation that delays their initial symptoms.
The hope is that this could help researchers find new ways of stopping the neurodegenerative disease if they can figure out how one copy of the very rare gene variant offers some protection.
“It opens new avenues,” said Yakeel Quiroz, a neuropsychologist at Massachusetts General Hospital in the US, who helped lead the study published on Wednesday.
“There are definitely opportunities to copy or mimic the effects.”
Genetic protection
Researchers studying a family in Colombia that shares a devastating inherited form of Alzheimer’s found that one woman 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.
She died from metastatic melanoma at the age of 77 in 2020, according to Massachusetts General Hospital.
Piedrahita de Villegas had two copies of an unrelated gene named APOE3 which had a mutation dubbed Christchurch. That odd gene pair appeared to delay her genetic predisposition for Alzheimer's.
Quiroz’s team tested more than 1,000 extended family members and identified 27 who carry a single copy of that Christchurch variant.
Those with the variant showed the first signs of cognitive problems five years later than relatives.
The findings, published in the New England Journal of Medicine, are encouraging, said Dr Eliezer Masliah of the National Institute on Aging.
“It gives you a lot of comfort that modifying one of the copies could be really helpful" at least for delaying the disease, he said.
Already some very early work is beginning to explore if certain treatments might induce the protective mutation, he added.
Quiroz cautioned there's still a lot to learn about how the rare variant affects the underlying Alzheimer’s process, including whether it affects the common old-age type.
An estimated 7.8 million people in Europe are living with dementia, according to Alzheimer's Europe, with the numbers expected to almost double by 2050.
