An effective gene therapy approach for dysferlin deficiencies

Research scientists at Généthon find a solution to the problem of the dysferlin gene’s size to transport it into muscle

A team of researchers led by Isabelle Richard (CNRS UMR8587 LAMBE) in the Généthon laboratory, created and funded by AFM through Téléthon, has just demonstrated the efficacy in animals of a gene therapy strategy for a group of muscle diseases: dysferlin deficiencies. The scientists managed to transfer the dysferlin gene using a newly developed technique for transporting a “large” gene into muscle. By splitting this gene into two and placing each part in two independent AAV vectors, they successfully obtained expression of a whole and functional protein in mice models for the first time. This research, published online in Human Molecular Genetics, paves the way for gene therapy for dysferlin deficiencies and provides new information for the transfer of other large genes.