Congratulations to our CON graduate student Tyler Thaxton (Gomez Lab), who was awarded the National Ataxia Foundation's Graduate Research Fellowship for 2024-2025.
His research focuses on "The functional domains of a1ACT and their impact on spinocerebellar ataxia type 6".
"Our lab discovered that a protein expressed in an embedded reading frame inside CACNA1A, termed a1ACT, contains a repeating tract of the glutamine amino acid, called a polyglutamine tract. Spinocerebellar Ataxia type 6 (SCA6) is caused by a mutation in the CACNA1A gene, wherein the polyglutamine tract is expanded past a normal range, which may affect any resulting protein’s ability to function properly. Our mouse models with reduced a1ACT expression exhibit ataxic-like symptoms. However, we do not fully understand how a1ACT functions, only that the polyglutamine tract expansion causes negative downstream effects. I am seeking to elucidate what domains a1ACT uses to better understand its disease-causing, polyglutamine expanded counterpart. Any knowledge we can gain on how a1ACT performs in either its normal or disease state will help us understand how SCA6 occurs and provide more clues to novel therapeutic options."
Way to go! Learn more about the 2024 NAF Research Grants here.