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Researchers have identified genetic variation that can influence the severity of chronic traumatic encephalopathy (CTE) disease.
TMEM106B is one of the first genes involved in CTE. This may partly explain why some athletes have severe symptoms of ETC while others are less affected despite similar head trauma.
The study provides preliminary evidence that this genetic variation could help predict which individuals are at higher risk of developing severe CTE pathology and dementia, according to the researchers. It also provides information on the mechanism of the disease underlying CTE, which could contribute to the development of biomarkers for lifelong diagnosis and the identification of targets for treatment.
Researchers from the Boston University School of Medicine (BUSM) and the Boston VA Health System (VABHS) studied 86 former contact sports athletes whose brains were donated to the VA-BU Brains Bank -CLF and found to have CTE signs, but no other. pathology. The brains of the athletes were examined to determine the genetic variation of TMEM106B, a gene believed to be involved in the inflammatory brain system. Overall, genetic variation was not different in patients with CTE compared to those without. "However, among athletes with CTE, variation predicted increased CTE pathology and brain inflammation, and the risk allele increased the likelihood of developing dementia by 2-fold, suggesting that variant could predict an increased risk of developing the symptoms of CTE, "explained first author, Jonathan Cherry, PhD, postdoctoral fellow in neurology at BUSM.
"These results may help explain why some people have more severe CTE-related outcomes while others are spared despite similar exposure to contact sports, and understand better why some people are at higher risk of CTE. we can identify new therapeutic targets to help everyone affected. " the disease, "said corresponding author Thor Stein, neuropathologist at VA Boston Healthcare System and assistant professor of pathology and laboratory medicine at BUSM.
The researchers cautioned that it was still difficult to determine the variation of TMEM106B at the individual level for people at risk of CTE. As a result, genetic testing for clinical care is not currently recommended.
The study appears in the newspaper Acta Neuropathologica Communications.
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