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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Rabi Tawil1, Silvère M van der Maarel2, Stephen J Tapscott3

  • 1Department of Neurology, University of Rochester, Rochester, NY 14642, USA ; Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.

Skeletal Muscle
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Summary

Facioscapulohumeral muscular dystrophy (FSHD) is caused by DUX4 gene expression in muscles due to faulty epigenetic repression. This breakthrough model guides new therapy development for FSHD patients.

Keywords:
DUX4EpigeneticFacioscapulohumeral muscular dystrophySMCHD1Tandem repeat sequences

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Area of Science:

  • Genetics
  • Molecular Biology
  • Epigenetics

Background:

  • The pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) has been debated for decades.
  • Recent advancements have led to a widely accepted model for FSHD.

Purpose of the Study:

  • To review the historical contributions leading to the current understanding of FSHD pathophysiology.
  • To highlight the emerging consensus on a new disease mechanism.

Main Methods:

  • Review of accumulated research findings from multiple laboratories over many years.
  • Analysis of epigenetic regulation and gene expression patterns.

Main Results:

  • FSHD is linked to inadequate epigenetic repression of the D4Z4 repeat array on chromosome 4.
  • This results in variegated expression of the DUX4 gene in skeletal muscle.
  • DUX4 expression in muscle triggers genes associated with FSHD pathology.

Conclusions:

  • A unifying model of FSHD pathophysiology has emerged, integrating decades of research.
  • This consensus marks a shift towards translational research and therapeutic development for FSHD.