Novel genetic and molecular approaches to Polycystic Kidney Disease:: a way to diagnose inconclusive cases and find new possible treatments

• Autores: Raquel Martínez Pulleiro
• Directores de la Tesis: Catarina Allegue Toscano (dir. tes.), Noa Carrera Cachaza (dir. tes.), Ángel Carracedo Álvarez (tut. tes.)
• Lectura: En la Universidade de Santiago de Compostela ( España ) en 2025
• Idioma: inglés
• Tribunal Calificador de la Tesis: Laura Cassina (presid.), Diana Valverde Pérez (secret.), Juan Rafael Muñoz Castañeda (voc.)
• Programa de doctorado: Programa de Doctorado en Medicina Molecular por la Universidad de Santiago de Compostela
• Materias:
  • Ciencias de la vida
    • Biología celular
      • Cultivo celular
    • Biología humana
      • Genética humana
    • Fisiología humana
      • Metabolismo humano
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en: MINERVA
• Resumen

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease, mainly caused by mutations in the PKD1 (80%) and PKD2 (15%) genes. Patients develop renal cysts over time, which can lead to kidney failure and the need for renal replacement therapy.

    This thesis aimed to improve the genetic diagnosis of ADPKD, especially in cases with variants of uncertain significance (VUS). It also explored the molecular mechanisms of ADPKD through comparative proteomic analysis. The identification of pathogenic variants and insights into the molecular dysregulation of ADPKD provide a foundation for developing targeted therapeutic strategies.

    Continued research is essential for advancing the diagnosis, treatment, and overall understanding of ADPKD.