This rare genetic mutation seems to have prevented Alzheimer's.
In the latest step toward development of potential treatments for Alzheimer’s disease, researchers have identified a rare gene mutation that seemingly prevented a Colombian woman from developing Alzheimer’s for decades. Scientists said the research, published in the journal Nature Medicine, presents a tantalizing clue for why some people are resistant to developing Alzheimer’s.
Like many members of her extended family, the woman, from Medellín, Colombia, carried a gene mutation called presenilin 1. This gene is known to cause younger-onset Alzheimer’s. In fact, researchers said family members with the gene mutation have a 99.9 percent risk of developing the disease as early as their 30s.
However, the woman did not develop Alzheimer’s until her late 70s. Scientists suspect the disease was held at bay by another extremely rare gene mutation the woman had called APOE3 Christchurch—or APOE3ch—named after Christchurch, New Zealand, where it was first identified.
“Sometimes close analysis of a single case can lead to discovery that could have broad implications for the field,” said Richard Hodes, Director of the National Institute on Aging (NIA), which provided funding for the research.
Dr. Guojun Bu, chairman of the neuroscience department at the Mayo Clinic in Jacksonville, FL, told The New York Times that the findings could be profound, although he stressed that much more additional research is needed.
“When you have delayed onset of Alzheimer’s by three decades, you say wow,” Bu said, adding that the research suggests a medication or gene therapy targeting APOE could be promising.
Yadong Huang, a neuroscientist at the Gladstone Institutes in San Francisco, called the case “very special.”
“This may open up a very promising new avenue in both research and therapy,” he told Science Magazine.
Neither Huang nor Bu were involved in the research, which was led by scientists at the Massachusetts General Hospital in Boston and the University of Antioquia in Medellín, Columbia, and the Banner Alzheimer’s Institute in Phoenix.
The NIA said that experiments undertaken as part of the study showed that the APOE3ch variant may inhibit the development of amyloid and tau protein deposits that destroy the brain.
Earlier this year, another set of researchers found that a gene linked to a rare neurological disorder may play a role in the development of Alzheimer’s.
For further background on genetic research and Alzheimer’s, watch a Being Patient video interview with Nathaniel Chin, Director of Medical Services at the Wisconsin Alzheimer’s Disease Research Center.