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Researchers are identifying genetic variations that may influence the severity of CTE disease
Researchers have identified a genetic variation that may influence the severity of chronic traumatic encephalopathy (CTE). TMEM106B is one of the first genes implicated in CTE. This may partially explain why some athletes experience severe CTE symptoms while others are less affected despite similar head injuries. 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 insights into the disease mechanism underlying CTE, which will aid in the development of biomarkers for diagnosis...
Researchers are identifying genetic variations that may influence the severity of CTE disease
Researchers have identified a genetic variation that may influence the severity of chronic traumatic encephalopathy (CTE).
TMEM106B is one of the first genes implicated in CTE. This may partially explain why some athletes experience severe CTE symptoms while others are less affected despite similar head injuries.
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 insights into the disease mechanism underlying CTE, which could help in developing biomarkers for diagnosis throughout life and in identifying targets for treatments.
Researchers at Boston University School of Medicine (BUSM) and the VA Boston Healthcare System (VABHS) examined 86 former contact athlete athletes whose brains were donated to the VA-BU-CLF brain bank and found evidence of CTE but no other pathology. The athletes' brains were examined for genetic variations in TMEM106B, a gene thought to be involved in the brain's inflammatory system. Overall, genetic variation did not differ between those with CTE and those without. "However, the variation predicted increased CTE pathology and encephalitis in the athletes with CTE. Additionally, the risk allele increased the odds of developing dementia by 2.5-fold, suggesting that the variant may predict increased risk of developing CTE symptoms," explains lead author Jonathan Cherry, PhD, Postdoctoral researcher in neurology at BUSM.
"These results may explain why some individuals experience more severe CTE-related outcomes while others are spared despite exposure to similar contact sports. By better understanding why some individuals are at higher risk for CTE, we can identify new therapeutic targets to help treat everyone." the disease,” said corresponding author Thor Stein, MD, PhD, neuropathologist at the VA Boston Healthcare System and assistant professor of pathology and laboratory medicine at BUSM.
The researchers note that it is still unclear what the variation in TMEM106B at the individual level means for people at risk of CTE. Therefore, genetic testing is not currently recommended for clinical care.
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