Gene therapy proved against muscular dystrophy with the ALBA synchrotron

A study by the Sant Joan de Déu Research Institute, ICFO, CIBERER and the ALBA Synchrotron has helped demonstrate that gene therapy can reverse the effects of the mutation that causes the symptoms of congenital muscular dystrophy in patient cells. The mutation, which leads to a disorder in the body’s collagen, has been silenced through a genetic editing technique based on the CRISPR/Cas9 system. Experiments at the MISTRAL beamline in ALBA have revealed previously unknown cell damage. Congenital muscular dystrophy is a rare minority disease that mainly affects children and has no treatment.

Congenital muscular dystrophy is a group of rare neuromuscular diseases. In particular, type VI collagen deficiency-related dystrophy affects less than 1 in 100,000 people, has varying degrees of severity, and has no cure.

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Image: Three-dimensional reconstruction of whole-cell volumes of control- (“healthy cell”), and patient-derived fibroblasts and CRISPR-treated fibroblasts. The different organelles present in the cells can be seen: nucleus in yellow, mitochondria in light blue, endo/lysosomal-like vesicles in violet, and multivesicular bodies in pink.