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



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"Among the people who have CTE, people with this [genetic] Dementia is 2.5 times more likely to develop dementia, "said Dr. Jesse Mez, an assistant professor of neurology at Boston University's Faculty of Medicine.Mez was co-author of the dementia. study, published Saturday in the journal Acta Neuropathologica Communications.

Mez said the results, although early, are a step towards a better understanding of the disease. "It helps us better understand biologically, mechanically, what's going on in the brain in the CTE.

"By understanding the mechanism and identifying this genetic risk factor, we have new potential targets for developing therapies," he said.

The authors stress that their conclusions need to be further developed in a larger group and replicated to allow definitive conclusions to be drawn.

Proceed with caution

Dr. Sam Gandy, a professor of neurology and psychiatry and director of the Center for Cognitive Health at Mount Sinai in New York City, said the results were simply too premature and could not explain other genes that may be involved in the disease, such as APOE4.

Gandy, who did not participate in the study, wrote in an email that the results "were not ready for prime time".

Dr. Bennet Omalu, the pathologist who first detected CTE in professional football players, acknowledged that it was too early to pull much of the results.

"We must act with caution." The study shows that the gene may be associated with a reduced risk of CTE, but that CTE is a polymorphic, polyphenotypic and polygenic disease, [and] Focusing on a gene, which can reduce the risk, can be an excessive effort, "said Omalu, who was also not involved in the new research, in an email.

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Mez and his team at Boston University are also studying other genes that may play a role in ETC. "If these other genes have an effect, it will probably be independent and additive to the discovery of TMEM."

Mez added that "it is likely that" several genes in the genome contribute to the risk and severity of CTEs, and that in the future, all the elements combined will improve our predictive ability. "

Today, CTE can only be diagnosed after death. This is thought to result from repeated head trauma. In football, this can happen not only from hard headaches leading to concussions, but also from repeated cracking of the brain inside the skull during fights and falls in the field. These repeated blows are called subconcussive blows and can result in an accumulation of a kind of protein called tau in the brain.

Early and prolonged exposure to repeated trauma is also considered a contributing factor to the disease. There is no treatment or treatment for the disease.

Genetic variant linked to a less severe CTE

Mez and colleagues evaluated the brains of 86 former football players with CTE and no evidence of other neurodegenerative diseases. and compared them to the brains of 376 patients who did not have CTE. All brains were part of the VA-BU-CLF Brains Bank, a collaboration between the Boston VA Health System, Boston University and the Concussion Legacy Foundation.

The researchers found no association between the gene variant and the CTE. But those who had CTE and the gene variant had lower tau and brain inflammation levels than those who had a CTE but no variant.

The inflammation and accumulation of tau in the brain contribute to degeneration of the brain.

"Among people with CTE, CTE-related outcomes were more severe, they were more likely to have dementia, and they were more likely to have advanced neurodegeneration in their brains," he said. Mez.

CTE found in 99% of studied brains of deceased NFL gamers

In a study last year, researchers at Boston University detailed the discovery of a CTE in the brain of 100 of the 101 former NFL players. And although the presence of the disease is extremely high in the study, it is difficult to extrapolate the overall prevalence among football players as well as the general public, because the brains studied had a potential bias: they were given by parents because the subjects had probably had symptoms of the disease such as memory loss, confusion, depression and impulse control problems.

Last week, the Concussion Legacy Foundation announced that 147 former colleges had already diagnosed a CTE at former football players.

Understand the difference

Dr. Geoff Manley, professor of neurosurgery at the University of California at San Francisco, believes that this new research is a step in the right direction.

"This research, although early, suggests the existence of some genetic risk factors, however, there was no difference between those with and without CTE." The TMEM106B gene was also associated with dementia frontotemporal, suggesting a potential overlap with a number of neurodegenerative diseases, "Manley, who did not participate in the study, wrote in an email. "More research is needed with a large number of people with and without long-term problems to fully understand their causes and effects."

Mez said, "We see a lot of former athletes who have similar exposure levels.Two college football players, who play for eight to ten years." Late in life, one from them develops a serious illness and the other can be slightly altered.

"I think it's helpful to understand this difference, and this finding begins to explain this type of difference," he said.

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