Kalamazoo researchers have discovered what causes a common kidney disease

  • Published: Jan. 27, 2025, 1:15 p.m.

WMED

Western Michigan University Homer Stryker M.D. School of Medicine. W.E. Upjohn M.D. Campus in downtown Kalamazoo, Michigan. (Joel Bissell | MLive.com)Joel Bissell | MLive.com

By 

  • Aya Miller | amiller2@mlive.com

KALAMAZOO, MI — Scientists at Western Michigan University Homer Stryker School of Medicine (WMed) have made a “groundbreaking” discovery.

A team led by Dr. Erik Larson, vice chair of the Department of Biomedical Sciences, has uncovered the cause of a common kidney disease after eight years of research, a news release from WMed said.

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Autosomal Dominant Polycystic Kidney Disease (ADPKD) affects one out of every 400 to 1,000 people, according to the release. Though the disease affects multiple parts of the body, the most notable symptoms is cysts that develop on the kidneys.

Scientists haven’t found a cure for the disease yet. Eventually, symptoms from the disease are fatal, said Dr. Gregory Vanden Heuvel, associate dean for foundational research and professor in the Department of Biomedical Sciences.

WMed kidney scientists

Researchers at Western Michigan University Homer Stryker School of Medicine. From left to right: Dr. Greg Vanden Heuvel, a professor in the Department of Biomedical Sciences, Agata Parsons, a research associate, Dr. Gerrit Bouma, a professor in the Department of Biomedical Sciences and Dr. Erik Larson, a professor in the Department of Biomedical Sciences.Laura Eller

The disease is inherited. Sometimes, parents don’t know they’re passing it on to their children until they have symptoms in their 20s or 30s. Symptoms include lower back pain and blood in the urine, Vanden Heuvel said.

“They go to the doctor to find out what’s going on, and they discover that they have cystic kidneys,” he said.

Individuals with the disease carry a mutant gene in their DNA. Every human has two copies of every gene in their DNA. Those without the disease have two normal, non-mutated genes.

The mutant gene is dominant, so anyone with the gene will eventually develop the disease, Vanden Heuvel said. Beyond the kidneys, the disease also impacts the liver, pancreas and blood vessels.

“Over time, the kidneys will shut down,” Vanden Heuvel said. Treatments like dialysis or a kidney transplant can restore function to the kidneys, but can’t address the disease’s impact on the rest of the body.

Cysts develop when the second gene also becomes mutated. Larson’s team identified the structures within the non-mutated gene that cause it to become mutated.

The next question for researchers: “Since we’ve identified the cause, can we find a molecule that prevents (the mutation) from happening and reduces the risk of cyst formation?” Larson said.

This discovery takes scientists one step closer to curing the common kidney disease, the release said.

“I‘ve been studying polycystic kidney disease for 30 years and this is the most significant discovery that I’ve ever been a part of,” Vanden Heuvel said.

Research to identify preventative methods has already begun, Dr. Larson said.

The research was supported by a WMed Pilot Research Project Support Program grant and an R15 grant from the National Institute of Health/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

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