What is the role of proteins called polycystins in patients with polycystic kidney disease? A team of researchers from CNRS and INSERM, led by Eric Honoré from the Institut de Pharmacologie Moléculaire et Cellulaire (IPMC, Université de Nice Sophia Antipolis/CNRS) has elucidated the molecular and cellular mechanisms linked to polycystin malfunctions that cause this common hereditary disease. In a study published on October 30, 2009 in the journal Cell, Honoré and his colleagues reveal a new biological function for polycystins in regulating pressure sensing.
Adult polycystic kidney disease is a genetic condition that affects about 60,000 people each year in France and for which there is currently no drug therapy. Hypertension is very often the symptom that reveals the presence of this disease, which is characterized by the development of renal, hepatic and pancreatic cysts. Polycystic disease thus affects the kidneys but also other organs, and particularly the cardiovascular system. Indeed, sufferers present with arterial fragility. Although this disease is responsible for 10% of cases of terminal renal failure, the most dangerous complication is linked to the development of intracranial aneurysms that can cause fatal cerebral hemorrhage.