Unipd develops a novel model to study limb-girdle muscular dystrophy


A small molecule belonging to the class of cystic fibrosis transmembrane regulator correctors (CFTR C17) could treat other genetic diseases, including Limb-Girdle Muscular Dystrophy (LGMDR3). This and other forms of sarcoglycanopathy are rare autosomal recessive diseases for which there are no specific therapies currently available.

A University of Padua research team, coordinated by Dorianna Sandonà of the Department of Biomedical Sciences, develops a novel mouse model treated with CFTR C17 that allows and sees a recovery of muscle strength without signs of toxicity.The team published their work in the scientific journal Human Molecular Genetics entitled CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.

Lacking the gene that corresponds to those in humans, novel models are encoded with the protein involved in LGMDR3. At one or two days old, the models are introduced to the human gene mutation responsible for the disease, with results similar to the effects of dystrophy in humans.

Dorianna Sandonà explains,'The most promising data from this study was treating the novel diseased model with the CFTR C17 corrector and the complete return of muscle strength and full recovery'.