CENTRAL TIME

Dr. Shane Hellyer will present the research, “Characterization of naturally occurring mGlu1 mutations in SCA44 and SCAR13.”

Science Showcase sessions explore a past NAF research grant awardee’s funded study to gain scientific insights about their Ataxia research.

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Lay Summary: Spinocerebellar ataxias (SCAs) are a group of debilitating movement disorders, characterized by abnormal and uncoordinated movement. SCAs are caused by genetic changes in proteins in the brain that are important for normal brain function. One such protein is metabotropic glutamate receptor 1 (mGlu1). mGlu1 has emerged as an exciting new target for the treatment of certain types of SCA, based on genetic differences seen in certain patients that cause a change in mGlu1 function. However, the full contribution of abnormal mGlu1 function to SCA progression is unknown. In addition, there exist a number of drug-like compounds that have the potential to restore normal mGlu1 function in a safe and effective way, but their effects on SCA-associated abnormal mGlu1 proteins have not been fully explored. This project aims to fully characterize the function of abnormal mGlu1 protein found in SCAs, as well as the potential utility of mGlu1 as a drug target for treating these disorders. We will explore how known genetic changes in SCA patients affect the function of mGlu1, and whether we can restore normal function using both existing and new chemical compounds. Overall, this project will provide crucial insight into the contributions of mGlu1 to the SCA disease process, and determine the viability of helping SCA patients using new medicines targeted at restoring mGlu1 function.