In July 2023, a team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire in Strasbourg published the validation of a new therapeutic strategy involving the overexpression of myotubularin 1 (MTM1) in a BIN1-linked centronuclear mouse model.
- Systemic administration of AAV-MTM1 does not alter the phenotype of DNM2-related centronuclear myopathy mouse models.
- However, in a mouse model of centronuclear myopathy linked to BIN1 :
- MTM1 overexpression obtained by this gene therapy prevented the onset of the disease and restored T-tubule biogenesis;
- injected intramuscularly into a symptomatic mouse, this gene therapy improved the phenotype from the fourth week after injection.
