Russian Scientists Find a Way to Treat Inherited Diseases

Researchers at Sirius University have developed an innovative technology that could potentially revolutionize gene therapy for inherited diseases. Their results were published in the journal Frontiers in Bioengineering and Biotechnology (FBIOE).

A major challenge in therapy using adeno-associated viruses (AAV) is their capacity to carry genes no longer than five thousand nucleotides. Many inherited diseases, however, are caused by mutations in much larger genes. The Russian researchers proposed an original solution: splitting large genes into fragments and then “reassembling” them inside the cell using specialized proteins called inteins.

They used the green fluorescent protein (GFP) as a model. By optimizing intein activity, the scientists achieved restoration of the full protein in 80% of cells. This opens the possibility of creating drugs to treat inherited disorders that were previously considered untreatable due to the large size of the affected genes.

According to the authors, the technology proved effective in liver cells as well as in retinal cells, indicating the potential to treat inherited diseases leading to vision loss. In the future, this approach might be adapted for treating Duchenne muscular dystrophy and other severe genetic disorders.