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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
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Gene Therapy00:59

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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Related Experiment Video

Updated: Mar 11, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

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Exon Skipping Therapy.

Courtney S Young1, April D Pyle2

  • 1Molecular Biology Interdepartmental Program, Center for Duchenne Muscular Dystrophy, Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095.

Cell
|November 19, 2016
PubMed
Summary
This summary is machine-generated.

Exondys 51 is the first FDA-approved therapy for Duchenne muscular dystrophy (DMD), targeting exon 51 to restore the reading frame in eligible patients. This treatment utilizes dystrophin expression as a surrogate marker for efficacy.

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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Duchenne muscular dystrophy (DMD) is a progressive genetic disorder.
  • Current treatments for DMD are limited, necessitating novel therapeutic approaches.

Purpose of the Study:

  • To introduce Exondys 51 (eteplirsen) as a novel therapy for Duchenne muscular dystrophy.
  • To highlight the mechanism of action and regulatory approval of Exondys 51.

Main Methods:

  • Exondys 51 employs antisense oligonucleotides to target and skip exon 51 in the dystrophin gene.
  • This exon skipping aims to restore the reading frame and enable production of a shortened dystrophin protein.

Main Results:

  • Exondys 51 received accelerated FDA approval based on dystrophin expression levels.
  • The therapy is indicated for DMD patients with mutations amenable to exon 51 skipping, representing approximately 13% of cases.

Conclusions:

  • Exondys 51 represents a significant advancement in Duchenne muscular dystrophy treatment.
  • The approval underscores the potential of targeted genetic therapies for rare diseases.