US researchers have developed a new gene editing method to combat spinal muscular atrophy (SMA), using genetically altered mice.
SMA is a leading genetic cause of infant death worldwide, with the loss of cells involved in motor function, leading to muscle weakness and atrophy and effects on speaking, walking, swallowing and breathing.
The research team at Massachusetts General Hospital, Boston, used gene editing technology, based on CRISPR, to modify a naturally occurring mutation in a gene (SMN2) that decreases the production of a crucial protein (SMN) for motor function.
Called single genome editing, it allows the correction of components in DNA belonging to specific genes that are not working due to these mutations.
The treatment successfully restored SMN protein production and improved motor symptoms in mice that had been genetically altered to present SMA symptoms.
The research – published in Nature Biomedical Engineering – marks a significant step towards a long-lasting genetic treatment for SMA. Future steps include combining the therapy with other drugs and developing new delivery methods for patients.