SWAlexander
Senior Member
- Messages
- 2,098
This discovery was too important.
The discovery by the ECRC and Max Delbrück Center researchers marks a turning point in the treatment of dysferlinopathies.
https://www.nature.com/articles/s41467-024-55086-0
The delayed onset of symptoms is due to the body's ability to initially compensate for dysferlin deficiency. Over time, however:
The discovery by the ECRC and Max Delbrück Center researchers marks a turning point in the treatment of dysferlinopathies.
Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy
Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies. We targeted a frequent loss-of-function, DYSF exon 44, founder frameshift mutation with mRNA-mediated delivery of SpCas9 in combination with a mutation-specific sgRNA to primary muscle stem cells from two homozygous patients.https://www.nature.com/articles/s41467-024-55086-0
The delayed onset of symptoms is due to the body's ability to initially compensate for dysferlin deficiency. Over time, however:
- Cumulative muscle damage from daily activity overwhelms the repair system.
- Muscle reserves are depleted as damaged cells are replaced with scar tissue (fibrosis).
- Inflammation and chronic stress further accelerate muscle degeneration.
