Study hints that a certain gene may worsen CTE

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Researchers who examine the degenerative mind illness that Aaron Hernandez and different soccer gamers have lengthy puzzled over a central thriller: Why does power traumatic encephalopathy, or CTE, hit some folks more durable than others?

In a paper printed Saturday, a workforce from the Boston University School of Medicine identifies a new clue in understanding an sickness that has raised worrisome questions in regards to the long-term dangers of taking part in contact sports activities.

Genes had been suspected of taking part in a position in CTE, and the examine is the primary to recommend a particular perpetrator: a frequent variant of a gene identified at TMEM106B.

The researchers examined the brains of a small group of individuals recognized after demise with CTE, which causes a vary of cognitive and emotional impairments and has been linked to repeated blows to the pinnacle. They discovered that these with the TMEM106B variant had been extra prone to have extreme illness, and had been 2.5 instances extra prone to develop dementia.

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But, to the researchers’ shock, having this gene variant didn’t make a person extra prone to develop CTE within the first place. That discovering “suggests that the environmental exposure to repetitive head impacts is the overwhelming driver of getting this disease,” stated Dr. Thor D. Stein, a neuropathologist at VA Boston Healthcare System and one of many examine’s authors.


Published within the journal Acta Neuropathologica
, the findings don’t allow people to get a genetic take a look at that will assess their threat of CTE. It’s seemingly that, as with Alzheimer’s illness, a number of genes have an effect on susceptibility to CTE, and scientists are a great distance from figuring out them, Stein stated.

But Dr. Merit E. Cudkowicz, chief of neurology at Massachusetts General Hospital, stated she was “pretty excited” about the place the BU examine may lead.

“This is the beginning of trying to link the genetic risk with the environmental risk,” stated Cudkowicz, who was not concerned within the analysis. In the distant future, she stated, “We may be able to say, ‘If you carry a particular set of genes, maybe you shouldn’t play contact sports.’ ”

More instantly, Stein and others stated, the examine factors the way in which for future analysis into the mechanisms underlying CTE, and that may lead sometime to remedies.

“This opens up a window to understanding some of the processes that may be at play,” stated Dr. Michael S. Jaffee, director of Trauma, Concussion and Sport Neurology on the University of Florida College of Medicine, who was not concerned within the examine. “It’s a good start at expanding the conversation.”

The examine is “a small pilot” and requires validation in a bigger group of sufferers, however its findings “have important potential implications,” stated a joint e-mail from Duke University’s Dr. Daniel T. Laskowitz and Ellen Bennett, neurology professors who examine mind damage. Identifying a genetic threat issue may present perception into the molecular mechanisms driving the illness’s development, which “may aid in the development of new therapeutic strategies to help patients with this elusive disease,” the Duke researchers stated.

A devastating sickness, CTE could cause reminiscence loss, issue considering, issues with impulse management, aggression, nervousness, and depression, and might progress to dementia. Although it’s unknown how prevalent it’s, CTE has captured the general public’s attention amid stories of high-profile athletes falling sufferer and worries in regards to the dangers of contact sports activities for younger folks.

Hernandez, the previous Patriots star, was found to have one of the crucial extreme instances of CTE amongst lifeless athletes whose brains had been studied by BU researchers. His household has sued the National Football League, accusing it of failing to guard from him from mind damage that may have contributed to his 2017 suicide whereas in jail for homicide.

Earlier this yr, the BU researchers reported that CTE may start sooner than anticipated, even in youngsters. That prompted the Concussion Legacy Foundation, a Boston-based nonprofit dedicated to mind trauma remedy and prevention, to discourage parents from permitting their youngsters to play deal with soccer earlier than age 14.

And on Friday, the inspiration reported that 147 faculties have had former soccer gamers recognized with CTE, together with 26 faculties with not less than three former gamers who developed the situation, which may be recognized solely after demise.

Not everybody who has skilled a number of head strikes develops CTE. And amongst those that do, the severity varies. These variations may be attributable to life-style and environmental components, or by genes.

At the examine’s outset, nearly nothing was identified in regards to the genetics of CTE, stated Stein, an assistant professor of pathology and laboratory medication on the Boston University School of Medicine.

But researchers had a hunch that TMEM106B may play a position, as a result of it has been linked to different degenerative ailments of the mind, together with a type of dementia generally known as frontotemporal lobar degeneration.

The workforce chosen 86 brains from amongst 271 within the Boston University CTE Center’s bank of donated brains. The researchers stated the examine group included the brains of some well-known athletes however declined to call them.

Seeking a pool of comparable folks, the researchers restricted their investigation to Caucasian soccer gamers who had been recognized with CTE however didn’t have one other mind illness.

They had two questions: Does this gene make a person extra prone to develop CTE? And does it have an effect on the severity of CTE in those that have it?

To reply the primary query, they examined one other analysis group’s database of 376 folks whose genes had been sequenced however who didn’t have a neurological illness. And they discovered that these healthy folks had been simply as prone to have the TMEM106B variant because the athletes who developed CTE.

“This suggests that this genetic variation doesn’t make you more likely to develop the disease,” Stein stated.

To reply the second query, the researchers remoted the TMEM106B gene from the 86 brains. They additionally assessed the severity of the CTE by analyzing brains underneath a microscope and reviewing the in depth questionnaires that buddies and relations stuffed out in regards to the mind donors’ signs whereas alive.

And they discovered that these with the TMEM106B variant had been additionally more likely to have extreme illness and dementia.

“For those with CTE, having even just one copy of the gene makes you 2.5 times more likely to develop dementia,” Stein stated. “Having two copies makes you five times more likely.”

But this TMEM106B variant is quite common — 60 % of individuals carry it. So clearly many different components affect the event of CTE.

TMEM106B is assumed to regulate processes that break down and remove proteins inside cells, and is lively within the mind’s inflammatory response to an infection and damage.

“If we can study this protein and try to understand more of what it does,” Stein stated, “we may be able to find ways to block its action or affect it. There might then be a treatment.”

Could this analysis result in folks ultimately having the ability to inform, via a genetic take a look at, whether or not they’re vulnerable to CTE? Not for a very long time.

“Maybe down the road when we have additional studies with more individuals, this is a thing you would use as indicating your risk,” Stein stated. “This, in addition to many other genes, might say what your risk is for developing severe disease if you are exposed to a lot of repetitive injury.”

Felice J. Freyer may be reached at [email protected]. Follow her on Twitter @felicejfreyer



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