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:6/27/2016)... California (PRWEB) , ... June 27, 2016 , ... "FCPX ... fully customizable inside of Final Cut Pro X," said Christina Austin - CEO of ... unique style. Final Cut Pro X users can now reveal the media ...
(Date:6/26/2016)... , ... June 27, 2016 , ... Quality metrics are ... in many ways they remain in the eye of the beholder, according to experts ... publication of The American Journal of Managed Care. For the full issue, click ...
(Date:6/26/2016)... Clarkston, Michigan (PRWEB) , ... June 26, 2016 ... ... respect to fertility once they have been diagnosed with endometriosis. These women need ... but they also require a comprehensive approach that can help for preservation of ...
(Date:6/25/2016)... ... 2016 , ... First Choice Emergency Room , the largest network of ... Medical Director of its new Mesquite-Samuell Farm facility. , “We are pleased to ... said Dr. James M. Muzzarelli, Executive Medical Director of First Choice Emergency Room. ...
(Date:6/24/2016)... Angeles, CA (PRWEB) , ... June 24, 2016 , ... ... surgery procedures that most people are unfamiliar with. The article goes on to state ... procedures, but also many of these less common operations such as calf and cheek ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... June 27, 2016 Jazz Pharmaceuticals plc (Nasdaq: ... under the Hart-Scott-Rodino Antitrust Improvements Act of 1976, as ... Celator Pharmaceuticals, Inc. ("Celator"; Nasdaq: CPXX ) ... Daylight Time). As previously announced on May ... definitive merger agreement under which Jazz Pharmaceuticals has commenced ...
(Date:6/24/2016)... June 24, 2016  Consumers have taken a ... have placed more emphasis on patient outcomes. ... programs in the pharmaceutical industry have evolved beyond ... pharmaceutical companies are focusing on becoming more patient-oriented ... products and services that improve health. ...
(Date:6/24/2016)... June 24, 2016   Bay Area Lyme ... Dean Center for Tick Borne Illness , ... Rehabilitation, MIT Hacking Medicine, University of California, Berkeley, ... announced the five finalists of Lyme Innovation ... More than 100 scientists, clinicians, researchers, entrepreneurs, and ...
Breaking Medicine Technology: