Gene-Targeting Approaches

Currently, there are no FDA-approved gene modifying therapies for SCA1. Though this is the case, there are methods that are currently being approached. One prominent example includes the process of testing on transgenic B05 mice. These mice contain a human ATXN1 gene with 82 CAG repeats, mimicking the neural and motor dysfunction found in sca1 patients. This is done through the overexpression of the ATXN1 gene through Pcp2 (Purkinje cell protein 2 promoter). This allows researchers to study disease progression and potential treatments. Another strategy includes RNA-targeted therapeutics, which is a class of treatments that interact with RNA by addressing the root genetic cause of a disease. One example of RNA targeted therapeutics for SCA1 are ASOs (Antisense Oligonucleotides). ASOs are short, synthetic strands of nucleic acids that bind to mutant ATXN1 messenger RNA (mRNA), reducing the production of the toxic ataxin-1 protein.