Sophia Antipolis: Sophia researchers pierce the mystery of polycystic kidney disease.
Work carried out within the IPMC*-CNRS has uncovered the molecular and cellular mechanisms that cause this frequent hereditary disease.
Until now there has been no drug therapy for polycystic kidney disease (PKD) in adults, which affects some 60,000 people a year in France alone, and which is characterized by the development of renal, hepatic and pancreatic cysts. But a team of researchers led by Eric Honoré at the Institut de pharmacologie moléculaire et cellulaire (IPMC, Université de Nice Sophia Antipolis/CNRS) have made a major breakthrough in the disease. And they’ve just published a study in the prestigious bi-weekly research publication, Cell, which shows that the disease could be linked to a malfunction of polycystin proteins 1 and 2 (coded by two genes, PKD1 and PKD2), which form an ion channel that allows the passage of calcium ions.
In polycystic patients, however, the channels formed by polycystins do not open correctly, calcium fluxes are reduced and this triggers cell proliferation and the formation of cysts. The team’s work will also help the understanding of the pathophysiological role of polycystins and could prepare the way for possible novel therapeutic strategies to treat polycystic kidney disease.
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