How does exon skipping work?

How does exon skipping work?

How does exon skipping work? Exon skipping uses small drugs called antisense oligonucleotides to help cells skip over a specific exon during splicing. This allows cells to join a different set of exons together to produce a protein that is shorter than usual but may have some function.

Is exon skipping gene therapy?

Mechanism and application of exon skipping Exon skipping has emerged as a potential therapy for DMD patients, the objective being to restore the dystrophin protein, altering the DMD phenotype into a less severe BMD [29].

What is exon skipping in DMD?

Exon skipping is a strategy currently being developed for Duchenne muscular dystrophy (although it may have application to other genetic diseases down the line) in which sections of genetic code are “skipped,” allowing the creation of partially functional dystrophin, the muscle protein missing in DMD.

What is a skipping mutation?

Definition. A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the MET gene. [

What is exon?

Exons are coding sections of an RNA transcript, or the DNA encoding it, that are translated into protein. Exons can be separated by intervening sections of DNA that do not code for proteins, known as introns. Splicing produces a mature messenger RNA molecule that is then translated into a protein.

What mutation causes exon skipping?

Some nonsense mutations cause skipping of one or more exons, presumably during pre-mRNA splicing in the nucleus; this phenomenon is termed nonsense-mediated altered splicing (NAS), and its underlying mechanism is unclear1,2,5,6.

What diseases can exon skipping cure?

Exon skipping is a treatment approach for people whose Duchenne muscular dystrophy (DMD) is due to certain mutations in its causative gene. Duchenne is the most common and severe type of muscular dystrophy (MD), marked by progressive muscle degeneration.

What do exons do?

What is exon and intron?

Introns are noncoding sections of an RNA transcript, or the DNA encoding it, that are spliced out before the RNA molecule is translated into a protein. The sections of DNA (or RNA) that code for proteins are called exons. Splicing produces a mature messenger RNA molecule that is then translated into a protein.

What is Exon?

What is exon inclusion?

It allows a gene to be transcribed into multiple isoforms (or mRNA transcripts) and hence increases the phenotypic complexity of an organism without increasing its genetic complexity. The exon-inclusion ratio, also known as percent spliced in (PSI), is a popular statistic for measuring alternative splicing events (2).

What is the difference between intron and exon?

Introns and exons are nucleotide sequences within a gene. Introns are removed by RNA splicing as RNA matures, meaning that they are not expressed in the final messenger RNA (mRNA) product, while exons go on to be covalently bonded to one another in order to create mature mRNA.