Eteplirsen is a synthetic antisense oligonucleotide used to treat Duchenne muscular dystrophy (DMD).
Understanding Eteplirsen
Eteplirsen works by targeting a specific genetic mutation in individuals with DMD. DMD is caused by mutations in the dystrophin gene, which is responsible for producing dystrophin, a protein essential for muscle function.
- Antisense Oligonucleotide: Eteplirsen is designed as an antisense oligonucleotide. This means it is a short, single-stranded DNA molecule that binds to a specific sequence of RNA (ribonucleic acid).
- Exon Skipping: Eteplirsen promotes "exon skipping" during the synthesis of the dystrophin protein. Exons are the coding regions of a gene. In some forms of DMD, certain exons are mutated, causing the protein synthesis to stop prematurely, resulting in a non-functional or severely truncated dystrophin protein.
- Mechanism of Action: Eteplirsen is specifically designed to bind to exon 51 of the dystrophin pre-mRNA. By binding to this exon, it causes the cellular machinery to "skip" over it during mRNA splicing. This allows the production of a shorter, but partially functional, dystrophin protein.
- DMD Treatment: While the produced dystrophin is not completely normal, it can still provide some benefit by improving muscle function and slowing the progression of DMD in certain patients who have mutations amenable to exon 51 skipping.
In summary, Eteplirsen is a synthetic antisense oligonucleotide that acts as an exon-skipping agent to address the underlying genetic cause of Duchenne muscular dystrophy in individuals with specific mutations.
