Mutation-Specific Research

Why One-Size-Fits-All Treatments Don’t Work in Muscular Dystrophy

Muscular Dystrophy is caused by mutations in the dystrophin gene—one of the largest genes in the human body. However, these mutations vary significantly from patient to patient, making it impossible to develop a universal treatment that works for everyone.

Types of Mutations in Muscular Dystrophy

The mutations that cause Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) can take different forms, including:

  • Deletions (Most Common) – A section of the dystrophin gene is missing.
  • Duplications – An extra copy of part of the gene is present.
  • Point Mutations – A single change in the DNA sequence alters protein function.
  • Frameshift Mutations – The reading frame is disrupted, preventing normal dystrophin production.

The Complexity of Deletions: Why Mutation-Specific Research is Needed

Even within deletions, the most common type of mutation, the location and combination of deleted exons varies widely:

  • The dystrophin gene consists of 79 exons, and deletions can occur in many different locations.
  • Some mutations fall within "hotspot" regions, where existing treatments and research efforts are focused.
  • However, many patients have deletions outside of these hotspots, meaning they don’t benefit from current exon-skipping therapies.

Why Mice Models Are Needed for Non-Hotspot Mutations

Current research is primarily focused on hotspot mutations (exons 45-55), where pharmaceutical companies are developing exon-skipping drugs. But patients with rare, non-hotspot deletions or unique mutations are left without targeted treatments.

Solution: We need mice models tailored to these rare mutations, using the same advanced gene-editing and exon-skipping technologies that have already shown success for hotspot mutations. By developing mutation-specific mice models, we can:

  • Test targeted therapies for individual mutations before human trials.
  • Expand research beyond hotspot mutations, ensuring no patient is left behind.
  • Give families a way to evaluate treatments before committing to untested options.
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