Translational research in ADPKD: lessons from animal models

Area of Science:

• Nephrology
• Genetics
• Translational Medicine

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder.
• Mutations in PKD1 or PKD2 genes cause ADPKD, affecting polycystin-1 and polycystin-2.
• Rodent models are crucial for studying ADPKD pathogenesis and preclinical therapy testing.

Purpose of the Study:

• To provide an update on preclinical models for ADPKD research.
• To discuss the use of these models in studying molecular pathogenesis.
• To highlight progress in understanding ADPKD pathophysiology through animal models.

Main Methods:

• Utilizing genetically engineered rodent models with Pkd1 or Pkd2 mutations.
• Employing models of renal cystic disease without specific gene mutations.
• Characterizing models based on disease onset, progression, fibrosis, and inflammation.

Main Results:

• Rodent models reveal that Pkd1 or Pkd2 mutations cause renal cysts, but additional factors are necessary.
• Renal injury accelerates cyst formation in these models.
• Animal studies demonstrate complex genetic and functional interactions relevant to ADPKD.

Conclusions:

• Preclinical rodent models are essential for advancing ADPKD research.
• These models provide valuable insights into ADPKD molecular mechanisms.
• Understanding ADPKD pathophysiology is significantly aided by animal studies.