KALAMAZOO, Mich. — A team of researchers at Western Michigan University's Homer Stryker M.D. School of Medicine has made a monumental breakthrough in understanding autosomal dominant polycystic kidney disease (ADPKD), a deadly and incurable kidney disease affecting 1 in 400 to 1,000 people.
The team just recently published their findings in a paper available to read online HERE.
ADPKD is a somewhat common inherited disorder that causes cysts to form throughout the kidneys, eventually leading to end-stage kidney failure. It can also affect the pancreas, liver and blood vessels.
Current treatments only manage symptoms, but researchers are hopeful that their discovery will pave the way for preventing the disease altogether.
The research team, led by Dr. Erik Larson and Dr. Gregory Vanden Heuvel, identified the cause of the second "hit" that leads to the formation of cysts in the kidneys.
Normally, everyone is born with two copies of a gene called PKD1. If one breaks, per se, your body can function fine off the second.
It’s when that second gene breaks that the cysts start to form.
The team found that a DNA structure, called a guanine quadruplex, is responsible for damaging the PKD1 gene, leading to the onset of the disease.
Knowing what actually causes the disease means that medical researchers can now look at how to prevent it from taking place in the first place.
The breakthrough began with a chance conversation between Dr. Larson and Dr. Vanden Heuvel in 2017. They realized that their areas of research overlapped and began exploring the PKD1 gene together.
Over the next several years, they assembled a team and received grants from the NIH and WMed to support their research.
This discovery offers new hope for patients and families affected by ADPKD. By understanding the cause of the disease, researchers can now focus on developing ways to prevent the second "hit" from occurring, potentially stopping the disease in its tracks.
"We meet these people, and they want their children's lives to be improved," said Dr. Vanden Heuvel. "It's very gratifying to know that we've made this remarkable finding."
With this breakthrough, the team is confident that future breakthroughs are likely, offering new hope for countless patients and families affected by this devastating disease.
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