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Sarcoglycanopathies: Molecular Pathogenesis And Therapeutic Prospects.pdf

Sandona_Sarcoglycanopathies_molecular_pathogenesis_and_therapeutic_prospects.pdf
Preview of Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects
🔗 Source: wwwold.biomed.unipd.it
📊 Size: 1.18 MB
👤 Author: Dorianna Sandonà, Romeo Betto
⬇️ Downloads: 138

Summary

Sarcoglycanopathies are autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins: a-, b-, g-, or d-sarcoglycan. These sarcoglycans form a subcomplex linked to the dystrophin-associated protein complex, essential for membrane integrity during muscle contraction. Mutations in individual sarcoglycans cause limb-girdle muscular dystrophy (LGMD) types 2C, 2D, 2E, and 2F. The clinical phenotype is heterogeneous, with progressive weakness and degeneration of skeletal muscle. Most genetic defects generate misfolded proteins degraded through the cell's quality control system, but recent evidence suggests that misfolded sarcoglycans could be rescued to the cell membrane by assisting their maturation along the ER secretory pathway. This review summarizes the etiopathogenesis of sarcoglycanopathies and highlights the quality control machinery as a potential pharmacological target for therapy.

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Sarcoglycanopathies are autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins: a-, b-, g-, or...

Technical Information

  • File Format: PDF
  • File Size: 1.18 MB
  • Pages: 27
  • Language: EN
  • Author: Dorianna Sandonà, Romeo Betto
  • Total Downloads: 138
  • Last Updated: 3 weeks ago

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