Rare gene mutation helps people resist Alzheimer’s disease

A sensory activity for people who carry a genetic mutation that causes early, aggressive Alzheimer's disease in Medellín, Colombia. In 2019, researchers announced the discovery of an unusually resilient person — a Colombian woman who carried a ticking time bomb in her genes that should have triggered an aggressive, early form of Alzheimer’s disease, starting in her 40s. But for three decades, the bomb didn’t explode.

of the study. “Maybe it was related to something she ate or didn’t eat. Maybe it’s something related to the water in the house. The idea of finding 27 people — some lived in the city, some lived in rural areas — increases our confidence in the discovery — and shows the results are reproducible.”Francisco Lopera, a neurologist at the University of Antioquia in Medellín, Colombia, began caring for patients suffering from an aggressive, inherited form of Alzheimer’s four decades ago.

People carry two copies of the APOE gene, one inherited from each parent. Having two copies of the Christchurch version, as Piedrahita de Villegas did, is “rare, extremely rare,” said Yakeel T. Quiroz, a clinical neuropsychologist at Massachusetts General Hospital. So they started to look for people with just one.A man who carried the Alzheimer’s risk mutation and a copy of Christchurch provided an initial clue.

Source: Healthcare Press (healthcarepress.net)

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