Researchers have discovered a new genetic mutation that triples the risk of Alzheimer's disease. A finding that, researchers say, will open up new ways of understanding and hopefully treating the disease that cripples lives of many people around the world.
The study was conducted by researchers from 44 institutions around the world and involved 1,092 Alzheimer's disease patients a control group of 1,107 healthy people. Researchers used genetic sequencing techniques to find the TREM2 gene. The study found that rare variants of this TREM2 gene were more likely to be present in people with Alzheimer's disease than in healthy individuals.
The TREM2 mutation is present in just 1.2 percent of the population. People above 85 years who have the mutation are 7 times more likely to develop Alzheimer's disease compared to those who don't have the mutation, said lead researcher Dr. Kari Stefansson, the CEO of deCODE Genetics based in Reykjavik, Iceland, reports HealthDay.
Alzheimer's disease Facts and Figures says that an estimated 5.4 million people have Alzheimer's disease that is one out of every eight older American.
The study can pave way for new kind of therapeutics that can help people with Alzheimer's disease.
"It points us to potential therapeutics in a more precise way than we've seen in the past," said Dr. William Thies, chief medical and scientific officer of the Alzheimer's Association, which wasn't part of the present study, according to NBC New York.
The most common variant of the TREM2 gene, R47H, was evaluated in follow-up studies of a large number of patients who had AD along with healthy people that acted as controls.
"R47H is the first goldilocks variant to show strong association with Alzheimer's disease," said Dr. Steven Younkin, from Mayo Clinic. A goldilocks variant is any variant that is "just right, not too rare and strong enough" to show an association in genotypic studies, according to a press release from Mayo Clinic.
The gene TREM2 is associated with inflammation and immune response.
"The variant found in our study identifies a fascinating new Alzheimer's disease gene, TREM2, which is involved in the immune system," Rosa Rademakers from Mayo Clinic said in a press release. "This fits well with other evidence linking the immune system to Alzheimer's disease, but additional studies are needed to establish that R47H does, in fact, act by altering immune function.
The study is published in the New England Journal of Medicine.