Ambra Marcianelli
Design of a Hybrid Delivery System Involving AAV and Extracellular Vesicles for Duchenne Muscular Dystrophy Gene Therapy.
Rel. Valentina Alice Cauda, Cristina Fornaguera Puigvert, Marta Guerra Rebollo. Politecnico di Torino, Corso di laurea magistrale in Ingegneria Biomedica, 2026
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Abstract
Duchenne muscular dystrophy (DMD) is a serious genetic disease that causes progressive skeletal muscle degradation, resulting in premature death. It is characterized by mutations in the DMD gene that encodes the dystrophin protein, responsible for the structural integrity of muscle cell membranes during contraction. It primarily affects males, with an incidence of 15.9 to 19.5 per 100,000 live births. Currently, DMD remains a disease with no definitive cure, capable only of slowing the degradation of muscle tissue. Therapeutic strategies focus primarily on modulating inflammation and managing symptoms, improving patients’ quality of life, but fail to halt the degenerative nature of the disease or restore the proper function of dystrophin.
In this context, gene therapy using adeno-associated viruses (AAVs) as vectors for the delivery of genetic material appears to be a promising approach thanks to their high transduction capacity and their specific tropism for muscular tissue
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