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



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"Among people who have CTE, people with this [genetic] "Dr. Jesse Mez, assistant professor of neurology at Boston University's School of Medicine." Mez was a co-author of the study, published Saturday in the journal Acta Neuropathologica Communications.

Mez said the findings, though early, are a step towards better understanding of the disease. "It helps us better understand biologically, mechanistically, what is going on in the brain in CTE.

"In understanding the mechanism and in identifying this genetic risk factor, we have new potential targets to develop therapies," he said.

The authors point out that their findings need to be further investigated in a larger group.

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, said the findings were simply too premature and could not be accounted for. APOE4.

Gandy, who was not involved in the study, wrote in an email that the findings were "not ready for prime time."

Dr. Bennet Omalu, the pathologist who first detected CTE in professional football players, agreed that it was too early to make much of the findings.

CTE, but CTE is a polymorphous and polyphenotypic and polygenetic disease, [and] can be a stretch, "Omalu, who was also involved in the new research, wrote in an email.

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Mez and his team at Boston University are also looking at other genes that may play a role in CTE. "If these other genes do not have an effect, they will be independent and additive with the TMEM finding."

It is more likely that it will contribute to CTE risk and severity, and to the future, and to all of them, to improve our predictive capability. "

Today, CTE can be diagnosed only after death. It's believed to result from repeated head trauma. In football, this can not be done in the past. These repeated hits are known as subconcussive hits and can result in a buildup of a kind of protein called tau in the brain.

Early and longer exposure to repeated trauma is also considered to be a contributor to the disease. There is no treatment or cure for the disease.

Gene variant of CTE

Mez and his colleagues evaluated the brains of 86 football players who had CTE and no traces of other neurodegenerative diseases and compared them to the brains of 376 patients who did not have CTE. All the brains were part of the VA-BU-CLF Brain Bank, a collaboration among the VA Boston Healthcare System, Boston University and the Legacy Foundation

The researchers found no association between the gene variant itself and CTE. But those who had CTE and the gene variant CTE but no variant.

Both inflammation and a buildup of tau in the brain contribute to the brain's degeneration.

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

CTE found in 99% of studied NFL players

In a study last year, Boston University researchers detailed finding CTE in the brains of 100 of 101 train NFL players. And although the presence of the disease is extremely high in the study, it is hard to extrapolate to overall prevalence exhibited symptoms of memory loss, confusion, depression and impulse control problems.

Last week, the Legacy Foundation has announced that 147 colleges have had football players diagnosed with CTE.

Understanding the difference

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

"This research, while early, suggests there may be some genetic risk factors." However, there is no difference between those with and without CTE. The TMEM106B gene has also been associated with frontotemporal dementia, suggesting potential overlap with a number of neurodegenerative diseases, "Manley, who was not involved in the study, wrote in an email. "More research is needed with large numbers of patients and with a full understanding of their cause and effect."

Mez noted, "We see a lot of trainers who have similar levels of exposure." "Two football players in college, who played eight to ten years." Late in life, one of them develops severe disease, and the other might be mildly impaired.

"I think it's worth to understand that difference, and this finding starts to explain these types of differences," he said.

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