University of Coimbra researchers test gene editing for Machado-Joseph disease

Researchers from the University of Coimbra, specifically from the Center for Neurosciences and Cellular Biology (CNC-UC) and the GeneT Center of Excellence in Gene Therapy, have successfully tested a new gene-editing strategy for Machado-Joseph disease. This hereditary neurodegenerative disorder progressively impairs motor functions and has high prevalence in certain regions of Portugal, such as the Azores.

The team utilized extracellular vesicles—small particles produced by cells—to transport CRISPR-Cas9 gene-editing tools directly to neurons in the brain. This method aims to inactivate the mutant ATXN3 gene, which is responsible for the disease due to excessive CAG genetic code repetitions.

Using extracellular vesicles offers several advantages over traditional viral vectors, including a reduced immune response, better encapsulation capacity, and transient expression of the editing machinery. This approach seeks to minimize unintended genetic edits by ensuring only temporary exposure to the editing tools.