Chronic Traumatic Encephalopathy Influenced by a Genetic Variation

A recent research has indicated that a genetic variation has an effect on the likelihood of developing severe chronic traumatic encephalopathy (CTE).  CTE is a neurodegenerative disease found in people who have had multiple head injuries.  Often, it gets worse over time and can result in dementia.  This is very frequent in athletes of contact sports, including boxing, football, wrestling, hockey, rugby, and soccer.  This could be the reason why some individuals present with severe CTE symptoms whereas others are less influenced even though they all suffered similar levels of head trauma.  The research was conducted by scientists from Boston University School of Medicine and the VA Boston healthcare System.  86 brains with evidence of CTE but no other pathology donated from former contact sport athletes were studied for genetic variation in TMEM106B, a gene thought to be involved in the brain’s inflammation system.  In athletes with CTE, this variation predicted increased CTE pathology and brain inflammation.  Moreover, it also increased the likelihood of dementia development by 2.5 times.

I think that being able to have a way to predict which individuals have a greater risk to develop severe CTE pathology and dementia is positive news.  It can also possibly help us understand the disease mechanism underlying CTE, providing us with targets in the mechanism to aim for in developing treatments as well.

For additional information, refer to the original article.

For additional information, click the link of the study in variation in TMEM106B in chronic traumatic encephalopathy.

Why do some people get CTE? It may be in their genes

Studies have been conducted on those with CTE and though most people believe the cause of the disease is from repeated hits to the heads, scientists are starting to believe there might be a genetic reason that it affects people differently. The gene TMEM106B may influence why some people develop more severe forms of the disease than others. Scientists argued that among patients with the disease, those with a genetic mutation were 2.5 times more likely to develop dementia. In a study, scientists studied 86 football players who had CTE and compared them to 376 people who did not have CTE. They found that people who had CTE and those who had the gene variant had lower amounts of tau and reduced inflammation in the brain, both of which contribute to the disease.
The studies are still in the early stages, so they have a long way to go before they can be published and considered true, but the fact that they are starting to find reasons people act differently with the same disease is amazing.These findings could help so many people, and eventually could probably go beyond the scope of just CTE and help treat dementia and Alzheimer's disease. Finding out what causes this disease to develop into dementia could be a stepping stone to figuring out what causes dementia, and hopefully could create a cure or treatment to slow the process.


https://www.cnn.com/2018/11/03/health/genetic-cte-severity-study/index.html
https://concussionfoundation.org/CTE-resources/what-is-CTE