優秀演題奨励賞　《English Session 部門》　Mitsuaki Yoshino

Background] Fabry disease is a hereditary condition in which patients lack the enzyme -galactosidase (-Gal A)leading to the accumulation of globotriaosylceramide (GL-3) in systemic cells.Among these cells, terminally differentiated cells are key targets that must be protected from such accumulation.Therefore, in Fabry disease, podocytes, as terminally differentiated cells, should be protected by therapeutic interventions.Gene therapy is an ideal approach for this disease, as it can provide the deficient enzyme through the transduced genes.However, the effects of gene therapy on podocytes have not yet been confirmed.[Materials and Methods] Fabry disease model mice (TgG3S/GLA KO mice) were used in this study.At 6 weeks of age, male TgG3S/GLA KO mice were injected intravenously with 210 12 vector genomes of AAV9 vectors containing human -Gal A cDNA.Eight weeks after the injection, their kidney tissues were examined using electron microscopy.In the untreated control group, GL-3 accumulation was observed in podocytes.However, in the treated group, no such accumulation was observed in most of the podocytes.Additionally, virus-like particles were found in the podocytes of the treated group but were not detected in the untreated control group.[Conclusion] AAV9 gene therapy in Fabry disease model mice was effective in removing GL-3 accumulation in podocytes.Furthermore, small particles were observed in podocytes only in the mice that received AAV9 gene therapy.