Autosomal dominant polycystic kidney disease: Disrupted pathways and potential therapeutic interventions

Area of Science:

• Nephrology
• Genetics
• Molecular Biology

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited renal disorder.
• It is characterized by kidney cyst development, leading to organ enlargement and potential renal failure.
• ADPKD is caused by mutations in the PKD1 or PKD2 genes, affecting polycystin proteins.

Purpose of the Study:

• To review molecular pathways implicated in ADPKD pathogenesis.
• To discuss the implications of these pathways for developing therapeutic strategies.
• To highlight emerging treatments like stem cell therapy for ADPKD.

Main Methods:

• Literature review of molecular pathways in ADPKD.
• Analysis of cellular processes involved in cyst formation and growth.
• Evaluation of current and potential therapeutic interventions.

Main Results:

• Cyst development in ADPKD involves deregulation of cellular pathways including proliferation, apoptosis, and metabolism.
• Elevated intracellular cyclic adenosine monophosphate (cAMP) drives cyst enlargement.
• Various interventions targeting these pathways show promise in preclinical models.

Conclusions:

• Understanding ADPKD molecular pathogenesis is crucial for targeted therapy development.
• Interventions modulating key signaling pathways offer therapeutic potential.
• Stem cell therapy represents a promising future approach for treating ADPKD.