Alzheimer’s breakthrough: Researchers confirm ‘protective gene’ delays disease

Alzheimer’s breakthrough: Researchers confirm ‘protective gene’ delays disease


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a significant Alzheimer’s Study New light is being shed on a protective gene that may be able to delay disease progression in people who do develop the disease.

Researchers at two Mass General Brigham hospitals — Mass Eye & Ear and Massachusetts General Hospital — are studying a large extended family in Colombia in which several members have the paisa mutation, which predicts an extremely high genetic risk of developing early-onset diabetes. Alzheimer’s disease,

According to a press release, most people with the money type have mild cognitive impairment by age 40, develop dementia by age 50, and die from complications of dementia by age 60.

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More than 27 out of 1,000 high-risk family members have one copy Rare gene variants – The APOE3 gene, known as Christchurch – reported to cause a delayed onset of symptoms.

brain dna genetics

A landmark study on Alzheimer’s has shed new light on a protective gene that appears to delay the development of the disease in people with the disease. (iStock)

The researchers found that, on average, they developed Alzheimer’s symptoms five years later than those who did not have the type.

By comparison, currently available drugs for Alzheimer’s only slow the progression of the disease by about six months.

The study findings, published in the New England Journal of Medicine on Wednesday, could have important implications for drug development.

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This is a follow-up to a 2019 study in which a woman from the same family who had two copies of the protective APOE3 Christchurch variant did not experience any disease symptoms until At the age of 70 – The disease occurred several decades later than the average age of disease onset, 44 years.

Mass Eye & Ear associate scientist Joseph F. Arboleda-Velasquez, M.D., Ph.D., who worked on the study, is originally from Colombia, where he spent years studying the woman’s case as part of his medical training.

brain scan

Imaging scans showed a marked reduction in tau and amyloid plaques, proteins that build up in the brains of Alzheimer’s patients. (iStock)

“It really was a surprise to the whole world that this Colombian woman beat Alzheimer’s — it was an amazing discovery,” he told Fox News Digital.

“But at the same time, we had to be very careful. Was it really true? Could it be replicated? It would be amazing if we could Developing treatments “Which replicate the effect of the Christchurch variant, but we didn’t have enough evidence.”

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“So, at that point we started a very broad project to try and find more people who lived in Christchurch to see if they were protected as well.”

In this latest study, the researchers analyzed 1,077 descendants of the Colombian family, focusing their attention on 27 people who had both the paisa mutation and one copy of the protective Christchurch variant.

“This can really change lives — not just at an individual level, but at a population level.”

On average, these 27 family members began showing symptoms of cognitive impairment at age 52 – compared to 47 for those without the Christchurch variant.

The press release said that imaging scans of the two individuals showed fewer signs of tau and amyloid plaques, which are proteins that build up in the brains of Alzheimer’s patients.

Arboleda-Velasquez said that although the original woman may have been dismissed as a “one-time wonder”, it New Study More evidence is provided that can assist in building a drug development program.

Evidence of Alzheimer's disease

A doctor explains evidence of Alzheimer’s disease on a PET scan at the Alzheimer’s Research and Treatment Center at Brigham and Women’s Hospital in Boston, Massachusetts. (Reuters/Brian Snyder/File Photo)

“Now, instead of one person, we have 27 more men and women – some who work, some who are retired, some in rural areas, some in the city – all of whom have been infected with the Christchurch variant and all of whom are safe,” he said.

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“And now we can move toward developing therapies that will do just that.”

“This can really change lives — not just at an individual level, but at a population level,” he said.

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The researchers acknowledged that the study had some limitations.

It analysed a relatively small number of people infected with the virus in both the Paisa and Christchurch variants, all belonging to the same (albeit large) family.

Mass General Hospital

Researchers at two Mass General Brigham hospitals — Mass Eye & Ear and Massachusetts General Hospital — led the new study. (iStock)

Additional studies including larger, more diverse groups are needed to confirm the protective effect of this variant and determine its targets. Potential TreatmentsResearchers said.

Some experimental treatments are already being developed, Arboleda-Velasquez pointed out.

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“A lot of people were very concerned by the initial discovery in Christchurch (in 2019), and it’s different now,” he said.

“This is a call to action — a call to create medicines that can take advantage of this discovery.”


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