A team of researchers from Western Michigan University has made a groundbreaking discovery about Autosomal Dominant Polycystic Kidney Disease (ADPKD), a disease that affects millions globally. For years, experts believed ADPKD was incurable because it is lethal and impacts one in 400 to 1,000 people. The team led by Dr. Erik Larson identified the root cause of this disease—our understanding has been incomplete until now.
ADPKD, an inherited kidney condition, causes cyst formation that eventually leads to kidney failure. This is due to a non-functional PKD1 gene, which becomes inactivated through what’s called a “second hit” mutation. However, the mechanism behind these mutations remained a mystery. Dr. Larson explained, “This discovery could prevent disease occurrence entirely.” Previously, there was no strategy to stop cyst formation; now researchers have actionable insights.
The study team, including Dr. Erik Larson and his collaborators at Western Michigan University Homer Stryker M.D. School of Medicine (WMed), was funded through grants from the NIH’s WMed Pilot Research Project Support Program and an R15 grant. Their findings also suggest that second hit inactivation could impact cancer-related genes, offering potential benefits for tumor prevention.
For more details on this groundbreaking research, visit [Full Publication Link].
Source: https://wwmt.com/news/local/wmu-researchers-make-groundbreaking-discovery-into-cause-of-common-kidney-disease-dr-erik-larson-adpkd-wmed-homer-stryker