Scientists are looking at the genetic risk factor of an Alzheimer's brain disease, CTE

New study suggests some people may be genetically more sensitive to severe symptoms Chronic Traumatic Encephalopathy (CTE)Alzheimer-type brain disease associated with repeated blows to the head. The study, conducted by researchers from the Boston University School of Medicine and the Boston VA Health System, is part of a growing effort to better understand the degenerative disease that affects men and women. disproportionately the people of the military service, football players and other contact sports athletes.

It is generally thought that the CTE stems from repeated head trauma. This can result in memory loss, confusion, impaired judgment, impulse control problems, aggression, depression, and possibly progressive dementia.

Research published in the Journal of the American Medical Association last year on 202 former football players found evidence of the disease in almost all. These athletes included those who played in the NFL, at the university and even in high school. CTE also made the headlines as a former former NFL high-level player, whose Frank Gifford and Ken Stabler, have been diagnosed with CTE posthumously in recent years.

The new study, published in the journal Acta Neuropathologica Communications, suggests that a genetic variation in a gene called TMEM106B might help explain why ETC affects some individuals more severely than others.

"We know that people can have more or less severe CTE disease even when they have suffered the same number of impacts on the head or contact sports. 39, one person to the other could partly explain this difference, "said Thor Stein, MD, author of the study. Ph.D., told CBS News. Stein is a neuropathologist at the VA Boston Healthcare System and an adjunct professor of pathology and laboratory medicine at the Boston University School of Medicine.

The researchers tapped into their bank over 600 brains donated by military families and deceased athletes. They decided to focus on 86 brains of former football players, who had all been diagnosed with CTE.

The researchers said the nature and frequency of head injuries made football players the ideal size of the sample to study the genetic factors of CTE.

The team identified two distinct categories of genetic variation of TMEM106B in the sample. About 60% of participants had major genetic variation and the remaining 40% had minor genetic variation.

Individuals with major genetic variation were 2.5 times more likely to have severe symptoms of CTE, a higher accumulation of p-tau (a feature associated with other neurodegenerative disorders such as Alzheimer and Parkinson's disease) and dementia during their lifetime.

Researchers do not yet know how TMEM106B influences the development of ETC, but they are working to better understand the relationship. Previous research has shown that the gene also plays a role in the development of other neurodegenerative diseases, such as ALS and Alzheimer's disease.

In the current state of affairs, the diagnosis of CTE can only be diagnosed by studying a person's brain after his death. The researchers hope that their discoveries can one day be used to predict who is most likely to develop severe symptoms of CTE while they are still alive.

"Understanding genetic risk factors could help us predict who will be most at risk of contracting the disease and, therefore, who will follow clinical treatment more closely and get treatment where possible," Stein said. . "Genetic risk factors can also provide clues about the mechanisms that can lead to the disease and guide how we might eventually target CTE treatments." It may also be useful to inform individuals before They do not engage in an activity associated with repeated impacts of the head. "

However, he notes that, although genetic variation may alter the course of the disease, "the main risk factor is the environment, namely repetitive blows to the head".

The researchers say that TMEM106B is probably just one of many genes that may play a role in the risk of ETC and that they are actively looking for other genes to better understand the disease.