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Investigating PKD2 deficiency-associated cardiomyopathies using hESC-cardiomyocytes and bioengineered 3D ventricular cardiac tissue strips - PubMed

6 hours ago
  • #PKD2 Deficiency
  • #Cardiomyopathy
  • #Stem Cell Models
  • The study investigates how PKD2 (polycystin-2) deficiency leads to cardiomyopathies in autosomal dominant polycystic kidney disease (ADPKD) patients using human embryonic stem cell-derived cardiomyocytes (hESC-CMs) and 3D bioengineered ventricular cardiac tissue strips (hvCTS).
  • PKD2 knockdown in these models resulted in decreased contractile force and slower contraction/relaxation velocities, indicating contractile dysfunction.
  • Mechanisms identified include elevated endoplasmic reticulum (ER) stress and reduced activity of sarcoplasmic reticulum Ca2+-ATPase (SERCA), contributing to the contractile defects.
  • Interventions with small molecular chaperones (4-phenylbutyrate/tauroursodeoxycholic acid) to alleviate ER stress or CDN1163 to stimulate SERCA activity partially rescued the contractile dysfunction in hvCTS.
  • The findings highlight the role of ER stress and SERCA dysfunction in PKD2 deficiency-associated cardiomyopathies, offering insights for potential therapeutic strategies.