Chang, J. C., Ryan, M. R., Stark, M. C., Liu, S., Purushothaman, P., Bolan, F., Johnson, C. A., Champe, M., Meng, H., Lawlor, M. W., Halawani, S., Ngaba, L. V., Lynch, D. R., Davis, C., Gonzalo-Gil, E., Lutz, C., Urbinati, F., Medicherla, B., & Fonck, C. (2024). AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of friedreich’s ataxia. Molecular Therapy. Methods & Clinical Development, 101193, 101193. doi:10.1016/j.omtm.2024.101193
Frataxin protein expression in heart tissue was detected in a dose-dependent manner, exhibiting wide distribution throughout the heart similar to wild-type, but more speckled. These results support an AAV8-based approach to treat FRDA-associated cardiomyopathy.