Modified viruses offer new treatments for mitochondrial disease

08.08.2022

With no current cure, mitochondrial diseases are a family of genetic diseases that seriously affect various organs and tissues of the body. The onset of mitochondrial diseases vary both in terms of how it manifests clinically and the age of patients. We know that such diseases originate from an inadequate production of energy by the cell that manifests a dysfunction in the respiratory chain. A team of researchers from the University of Padua, coordinated by Carlo Viscomi and Massimo Zeviani, directors of the Mitochondrial Medicine Laboratory, recently published a study in the Brain Journal of Neurology entitled Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4−/− mice that identifies a possible new approach in the search for a cure for mitochondrial diseases (authors: Samantha Corrà, Raffaele Cerutti, Valeria Balmaceda, Carlo Viscomi, Massimo Zeviani).

The team developed an AAV virus capable of re-expressing the human NDUFS4 gene and introduced it into murine mutant mice at birth. The study showed that 4 out of 5 mice survived well beyond the six months mark compared to the six week survival of untreated mice. Mice treated with AAV demonstrated a lower neurological deficit of the motor type and fewer biochemical deficits compared to the progressive decay found in untreated mice.

Prof. Massimo Zeviani of the Department of Biomedical Sciences of the University of Padua explains, “Our study offer a possible new and promising approach in the therapeutic research of mitochondrial diseases, such diseases are some of the most important families of genetic diseases for which there is no cure.”

The study is the result of a project carried out thanks to the support and collaboration of researchers from the University of Padua with Telethon Foundation, Associazione Luigi Comini Onlus, and Fondation NRJ pour les Neurosciences.