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2015 Grants - Mez
Exploring MAPT and Tau-Related Genes in Chronic Traumatic Encephalopathy
Jesse Benjamin Mez, M.D.
2015 New Investigator Research Grant
How do variations in certain genes affect the risk of dementia related to traumatic brain injury in athletes?
Chronic traumatic encephalopathy (CTE) is a degenerative brain disease most common in people who have experienced repeated traumatic brain injury such as professional athletes who play contact sports. People with CTE exhibit declines in brain function resembling other forms of dementia, such as Alzheimer’s disease. However, the patterns of brain injury in CTE differ from other types of dementia. CTE occurs only in people who have experienced repeated brain injury, but some people who experience repeated brain injury never develop CTE. This leads scientists to suspect that genetic factors may also contribute to the risk of developing CTE.
Tau is a protein that normally helps transport nutrients throughout nerve cells. In Alzheimer’s disease, tau loses its normal function and forms abnormal structures known as tau tangles that are thought to be toxic to nerve cells. People with CTE also develop tau tangles, but their pattern of development is different than in Alzheimer’s disease.
Jesse Benjamin Mez, M.D., and colleagues will study how the risk of CTE is influenced by the gene that codes for the tau protein, known as microtubule associated protein tau (MAPT), and by other genes that interact with MAPT. The researchers will examine brain samples from a large study of former athletes, some of whom had CTE. Using advanced genetic analysis, they will determine how certain variations in the MAPT gene and other tau-related genes affect the rate of tau accumulation in the brain and the onset and severity of CTE.
These studies will help scientists understand why certain people are at greater risk of CTE than others, and how genetic variations impact that risk. Such findings may lead to novel therapies to prevent CTE or reduce its severity. Because tau tangles are a feature of many dementias, including Alzheimer’s, a better understanding of the factors that lead to abnormal tau accumulation will help identify potential targets for drug treatments across a wide span of neurodegenerative diseases.