Private MD News

Gene mutation may hinder immune system from preventing Alzheimer's

Category: DNA, Paternity and Genetic testing

According to The New York Times, two separate studies recently published in the New England Journal of Medicine revealed that a mutation in a certain gene known as TREM2 may hinder the immune system's ability to protect the brain from Alzheimer's disease.

The news source reported that when the gene is not mutated, white blood cells in the brain are able to clean up the plaque known as beta amyloid that builds up and causes Alzheimer's. With the mutation, patients are at an increased risk of developing the disease.

One of the study authors, John Hardy, Ph.D., of the University College London referred to the gene's normal state as a "safety net," as quoted by the news source, and with the mutation, people "are living without a safety net."

This research has implications for a new Alzheimer's treatment, and Alison Goate, a researcher at Washington University in St. Louis, Missouri who was involved with one of the studies, reported that this would give the healthcare industry a new approach to combating the disease.

Details of the studies
In order to find the gene, researchers in one of the studies, led by Kari Stefansson, M.D., of deCODE Genetics in Iceland, analyzed the genomes of 2,261 patients and found TREM2. The investigators discovered that those with Alzheimer's were more likely to have the mutation in TREM2 than those who did not.

In the second study, Hardy, along with Rita Guerreiro, Ph.D., of the University College London and Andrew Singleton Ph.D., of the National Institute on Aging, were investigating patients who suffered from a rare disease in which they experienced symptoms of dementia and crumbling bones. The researchers came across the TREM2 mutation, and upon further investigation, they found that those who had the mutation were more likely to have Alzheimer's.

Alzheimer's statistics and diagnosis
According to the Alzheimer's Association, 5.4 million Americans are living with the disease and it has the sixth highest fatality rate in the U.S.

In order to be diagnosed with the condition, the National Institutes of Health (NIH), reports that a physician will give a complete physical exam, question the patient about medical history and provide a mental status test. The NIH also notes that many times, doctors will do a lab test to rule out other causes, such as chronic infection, vitamin deficiency or intoxication from medication.