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Molecular mechanisms in podocytopathies: finding suitable targets for a new era of glomerular gene therapy - PubMed

3 days ago
  • #gene therapy
  • #podocytopathies
  • #glomerular disorders
  • Podocytopathies are glomerular disorders caused by podocyte dysfunction, leading to proteinuria and glomerulosclerosis.
  • Key podocyte components involved include slit-diaphragm proteins (nephrin, podocin), cytoskeletal regulators (ACTN4, TRPC6), and adhesion complexes (integrins, dystroglycan).
  • Current therapies often fail to address genetic or molecular defects, especially in hereditary or refractory cases.
  • Gene therapy offers a transformative approach using AAV vectors, CRISPR-based editing, and RNA modulation to correct mutations or restore pathways.
  • Recent advances include improved podocyte targeting via capsid engineering, tissue-specific promoters, and better delivery strategies.
  • Preclinical successes include AAV-mediated rescue of NPHS2-associated nephrotic syndrome and complement modulation in IgA nephropathy.
  • Challenges remain, such as immune responses, vector biodistribution, and disease heterogeneity.
  • Future directions include patient-derived organoid models and combinatorial therapies for precision medicine in podocytopathies.