Scientists have found a rare genetic variant that slows the start of Alzheimer's symptoms by five years. This gives researchers new hope for finding ways to treat this terrible disease.
This discovery could lead to new ways to fight Alzheimer's, a disease that affects millions of people around the world.
The Discovery of Genetic Protection
The study is being led by neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, looking at a unique genetic trait that has been found in a big Colombian family with a history of Alzheimer's that starts early. The study, which was published in the New England Journal of Medicine, shows that having just one copy of a rare gene variant called APOE3 Christchurch can protect against the disease in a big way.
Researchers found Aliria Piedrahita de Villegas a few years ago. She didn't show signs of Alzheimer's until she was in her 70s, even though her genes made her more likely to get it. In my family, people started losing their mental abilities around the age of 40. Scientists looked more closely and found that she had two copies of the APOE3 Christchurch mutation. This seemed to protect her from getting Alzheimer's early.
Quiroz's group's study included more than 1,000 extended family members. They found that 27 people had a single copy of the APOE3 Christchurch variant. The average age of cognitive loss for these people was 52, five years later than for those who did not have the variant. This long delay suggests that the APOE3 Christchurch variant might have some protective benefits.
Dr. Eliezer Masliah of the National Institute on Aging was optimistic about the results and said that changing one copy of the gene might be helpful. "It gives you a lot of comfort that modifying one of the copies could be really helpful, at least in helping to delay the disease," said Masliah. Researchers are just looking into whether specific methods could cause the protective mutation.
A Revolution for Alzheimer's Disease Treatment
Over 6 million Americans and about 55 million people around the world have Alzheimer's disease. Less than 1% of cases, like the ones in the Colombian family, are caused by inherited DNA mutations that cause Alzheimer's to start early. Most cases happen in older people.
Many people who have the APOE gene are more likely to get Alzheimer's. The risk is higher for people with the APOE4 variant but lower for people with the APOE2 variant. The APOE3 form, thought to be neutral, has now shown that it might play a protective role through the Christchurch mutation.
Studies have shown that Alzheimer's signs are caused by changes in the brain that happen slowly over many years. These changes include the formation of amyloid plaques and tau tangles, which kill brain cells. The Christchurch version stops these tau tangles from forming, which slows down cognitive decline.
Even though the results are good, we still don't know how the APOE3 Christchurch type protects people. Brain scans and body studies of people with the variant have shown that tau and amyloid buildup are less common, suggesting a different pathophysiological process.
Quiroz and her team are still investigating how this rare genetic variant affects the development of Alzheimer's. Understanding how these things work could help us develop new treatments, like the Christchurch variant's protection effects.
Finding out that the APOE3 Christchurch version can help protect against Alzheimer's disease gives us hope in the fight against this terrible disease. As scientists learn more about how genes work, they might be able to come up with new treatments that could slow or even stop Alzheimer's.
This vital discovery shows how crucial genetic study is for finding new ways to treat and cure Alzheimer's. It gets us closer to a time when the mind-altering effects of this disease can be controlled or gotten rid of completely.
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