Navigation Links
Scientists ID Gene Mutation That May Triple Alzheimer's Risk

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:
Related Image:
Scientists ID Gene Mutation That May Triple Alzheimer's Risk
(Date:12/1/2015)... ... December 01, 2015 , ... ... Rehabilitation P.C.went to NASDAQ to educate the personnel on spinal decompression therapy and ... the spine, a nonsurgical procedure. The benefits come from creating negative intradiscal pressure ...
(Date:12/1/2015)... ... December 01, 2015 , ... The Multiple System Atrophy Coalition ... funds for Multiple System Atrophy (MSA) research, timed today to coincide with Giving Tuesday ... from patients including their ability to work and be productive, to do simple daily ...
(Date:12/1/2015)... ... December 01, 2015 , ... ... detailing the important role that meat and poultry play in a healthy, ... poultry, a nutrition quiz where visitors can check their “meat IQ,” a section ...
(Date:12/1/2015)... (PRWEB) , ... December 01, 2015 , ... World ... the Multi Jar, a container patent that allows for easier packing and organizing of ... US is worth $90 billion," says Scott Cooper, CEO and Creative Director of World ...
(Date:12/1/2015)... ... 01, 2015 , ... Henderson, a town of about 6,300 ... through a partnership this year with Aeneas Internet and Telephone. , With faster ... for entrepreneurs who want to build a business. Whether startups or long established ...
Breaking Medicine News(10 mins):
(Date:12/1/2015)... , Dec. 1, 2015   Craneware, Inc ... cycle solutions, today announced the company will showcase ... ChargeLink ® solution at the American ... Clinical Meeting . The new features are focused ... of monitoring and managing enterprise-wide pharmacy charges to ...
(Date:12/1/2015)... -- Booth #3506 – Claymount is featuring its full line of ... Radiological Society of North America (RSNA) ... the Netherlands , Claymount is part of ... VAR ) and is one of the world,s leading suppliers ... exposure control systems for controlling dose during medical X-ray imaging. ...
(Date:12/1/2015)... WASHINGTON and TELTOW, Germany ... SensoMotoric Instruments (SMI) , a leading global manufacturer of ... RightEye LLC has included SMI remote eye trackers ... that help healthcare providers assess concussions, eye sight, and ... SMI RED -oem technology is part of SMI,s mass-market-ready ...
Breaking Medicine Technology: