This review, published by Williams et al discusses possible gene therapy approaches for the prevention of retinal degeneration in Usher syndrome.
For Usher syndrome, early studies used lentiviral (LV) delivery of the MYO7A (USH1B) gene, successfully correcting mutations in mice. Recent research shows that adeno-associated virus (AAV) can also deliver the large MYO7A gene effectively by packaging it in fragments that reassemble in target cells.
Challenges remain with large genes or genes with multiple isoforms, common in Usher syndrome. Multiple isoforms mean that a single gene produces multiple versions of a protein, each with a slightly different function. This complexity makes it harder to ensure that gene therapy targets all necessary versions. Antisense oligonucleotides (ASOs) and CRISPR-Cas gene editing offer alternatives by targeting specific mutations directly. Despite some limitations, these methods are promising.
What this means for Usher syndrome: Gene therapies show promise for development as possible treatments for Usher Syndrome. Further tests are needed to refine treatment strategies, especially for large or multi-isoform genes.
