Navigation Links
Scientists ID Gene Mutation That May Triple Alzheimer's Risk
Date:11/15/2012

By Steven Reinberg
HealthDay Reporter

WEDNESDAY, Nov. 14 (HealthDay News) -- A rare mutation in a gene called TREM2 appears to nearly triple the risk for Alzheimer's disease in adults, a new study finds.

This gene is involved in immune and inflammatory responses, and may be yet another piece of the mystery of the causes of Alzheimer's disease and a target for treatment, the researchers added.

"We found a mutation that confers a large risk for Alzheimer's disease," said lead researcher Dr. Kari Stefansson, the CEO of deCODE Genetics based in Reykjavik, Iceland.

Although only 1.2 percent of the population has the TREM2 mutation, when comparing adults aged 85 and older with and without it, those who do have it are almost seven times more likely to have Alzheimer's disease, he said.

Of course, having this mutation doesn't mean that one is destined to develop Alzheimer's disease. Alzheimer's is a complex disease and a person probably needs to have several risk factors that combine to produce the condition, Stefansson said.

"This has implications for treatment," he said. The mutation might be a target for new drugs that blunt the mutation's action, he said.

The report was published in the Nov. 14 online edition of the New England Journal of Medicine.

An Alzheimer's expert praised the new study.

"This shows the value of basic research," said William Thies, chief medical and scientific officer at the Alzheimer's Association. "This kind of science is very important, and can accelerate our finding better therapies for Alzheimer's disease."

Thies noted this finding doesn't mean people should run out and be tested for this mutation. The mutation might, in the future, be important for treatments, but that's a long way off, he said.

The need to develop treatments for Alzheimer's disease is a pressing issue, he added.

"The imperative for finding new therapies is obvious," Thies said. "When we get to 15 or 16 million people with the disease by the middle of the century, which is what the demographics would suggest, we can't take care of that many people and the dislocation in society is just going to be a mess."

For the study, Stefansson's group obtained gene sequences from more than 2,200 Icelanders. The researchers looked for gene variants in those with and without Alzheimer's disease.

To check their results, the researchers looked at other populations in the United States, Norway, the Netherlands and Germany, where they confirmed their findings.

Another expert noted that the inflammation finding is important.

"Inflammation is certainly part of the conventional wisdom in the pathogenesis of Alzheimer's," said Dr. Sam Gandy, associate director of the Mount Sinai Alzheimer's Disease Research Center in New York City.

What this study says is that inflammation is so important that imbalance in the inflammatory component can affect the risk for disease, he said.

"We don't have a new drug today, but TREM2 highlights potentially druggable steps in the pathogenesis of Alzheimer's that we might have never ever even studied were it not for this genetic information," Gandy said.

Another expert, Greg Cole, a neuroscientist at the Greater Los Angeles VA Healthcare System and associate director of the Alzheimer's Disease Research Center at the UCLA David Geffen School of Medicine, weighed in on the findings.

Cole said that "together with other discoveries of genetic variants in genes expressed in the same population of immune cells, this study adds to the now compelling data for a causal role for the brain's innate immune cells in the development of Alzheimer's disease, the most common dementia."

Understanding the role of genetic mutations "should help researchers devise drugs that achieve the opposite effect and modulate innate immune system function to reduce the risk," he said.

Another study in the same journal issue came to the same conclusion.

A team lead by John Hardy, at the University College London Institute of Neurology, and Andrew Singleton, at the U.S. National Institute on Aging (NIA), also found that the TREM2 mutation increased the risk for Alzheimer's disease.

"We have hypothesized for many years that a rare genetic variant can confer moderate risk for disease," Singleton said in an NIA statement. "These are the first studies to identify such a variant related to Alzheimer's disease."

More information

To learn more Alzheimer's disease, visit the Alzheimer's Association.

SOURCES: Kari Stefansson, M.D., Ph.D., CEO, deCODE genetics, Reykjavik, Iceland; William Thies, Ph.D., chief medical and scientific officer, Alzheimer's Association; Sam Gandy, M.D., Ph.D., associate director, Mount Sinai Alzheimer's Disease Research Center, New York City; Greg Cole, Ph.D., neuroscientist, Greater Los Angeles VA Healthcare System, and associate director, Alzheimer's Disease Research Center, University of California, Los Angeles, David Geffen School of Medicine; Nov. 14, 2012, news release, U.S. National Institute on Aging; Nov. 14, 2012, New England Journal of Medicine online


'/>"/>
Copyright©2012 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Kessler Foundation scientists report negative impact of long-term caregiving on cognition
2. John Templeton Foundation grant supports Princeton neuroscientists to study cognitive control
3. Scientists discover how stomach cancer spreads
4. How do cells tell time? Scientists develop single-cell imaging to watch the cell clock
5. Scientists Find Gene Differences in Nonsmokers With Lung Cancer
6. Scientists at IRB BARCELONA discover a key process that allows colon cancer to metastasize
7. Scientists uncover a new pathway that regulates information processing in the brain
8. 2 Scripps Research Institute scientists honored by American Chemical Society
9. Scientists test 5,000 combinations of 100 existing cancer drugs to find more effective treatments
10. Loyola names Junior and Senior Scientists of the Year
11. Scientists find Achilles’ heel of cancer cells
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists ID Gene Mutation That May Triple Alzheimer's Risk
(Date:5/26/2016)... ... May 26, 2016 , ... ... Blood Pressure products . , High blood pressure affects millions of people ... high blood pressure can lead to heart disease, stroke, kidney disease, and hardening ...
(Date:5/26/2016)... , ... May 26, 2016 , ... HealthPostures, ergonomics designer ... chair , furniture that may support women during pregnancy. Potential benefits of using the ... improved rest and comfort and healthier levels of sitting and standing. , Need for ...
(Date:5/26/2016)... ... May 26, 2016 , ... Bunion Bootie is a great option ... and save. For a limited time only (offer expires May 31, 2016) customers can ... one, by using the promo code "Memorial" at checkout. The more Bunion Booties purchased, ...
(Date:5/25/2016)... (PRWEB) , ... May 26, 2016 , ... The 12th ... 6pm to 7.30pm PST at HP in Palo Alto, CA. This Bay Area biotech ... be led by clinical trial experts from the pharmaceutical company Hallux, biopharma Apexigen, Contract ...
(Date:5/25/2016)... Chicago, IL (PRWEB) , ... May 25, 2016 ... ... HealthScape Advisors,” said Steven Young, a Managing Partner at HealthScape Advisors. “Brad brings ... value-based care within the healthcare delivery system accelerates with the implementation of MACRA, ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... Calif. , May 25, 2016  Zymo ... testing for their new reference materials that help ... from sample collection to analyses. The rapid growth ... demand for researchers to have standard methods to ... being generated. Biases inherently exist at every step ...
(Date:5/25/2016)... As illustrated by the Spring ... the numbers and momentum of cannabis in the US ... billions, more research and development push the sector forward. ... Legal Marijuana Markets Report  from from ArcView Market Research ... the increase in sector is attributed to adult use ...
(Date:5/25/2016)... -- MedDay, a biotechnology company focused on the ... entitled "High doses of biotin in progressive multiple sclerosis: extension ... Professor Ayman Tourbah , Principal Investigator of the Phase ... of Neurology (EAN) in Copenhagen, Denmark . ... place on Sunday, 29 May 2016 from 14:45 to 16:15 ...
Breaking Medicine Technology: