Dysfunction of caveolae in muscle disease: A cell biological perspective.

Loss or dysfunction of skeletal muscle caveolae is linked to a spectrum of muscle diseases, including caveolinopathies associated with rippling muscle disease.

• Why it matters: Understanding how caveolar defects lead to muscle dysfunction is crucial because the precise downstream mechanisms remain unresolved, hindering targeted treatments.
• What they did: The review discusses cell biology related to caveolar disruption in muscle diseases, emphasizing recent structural and functional advances that reveal how loss of caveolae affects mechanoprotection, signal transduction, lipid organization, and T-tubule function.
• The result: This analysis proposes a unifying classification system for caveolin-3 variants, aiming to connect molecular defects with clinical phenotypes and improve mechanistic understanding of muscle disease pathology.