$6.8 million to fund research into Cantu syndrome, cardiovascular disease

Scientists studying link between rare disease and heart health Read More

From the WashU Newsroom

If Dorothy K. Grange’s name hadn’t looked quite so out of place among the authors listed in a 2012 paper, Colin Nichols might have missed it. But the oddity of an English name buried in a long list of Dutch ones jumped out at the British-born Nichols even before he saw her affiliation: Washington University School of Medicine in St. Louis, same as his.

The two had never met, even though they worked in neighboring buildings. Their research interests could not be more different. Nichols, the Carl F. Cori Professor of Cell Biology and Physiology, had spent three decades studying a complex of proteins that regulates potassium levels in cells. Grange, MD, a professor of pediatrics, was one of the few people in the world studying patients with Cantu syndrome, a genetic disease linked to a hodgepodge of curious symptoms including excessive hair growth, enlarged hearts, bone abnormalities and swollen legs.

But as Nichols read the paper by Grange and her Dutch collaborators, he realized they had been looking at two sides of the same coin. The researchers showed that people with Cantu syndrome carry mutations in one of the proteins that makes up a potassium channel – the very one to which Nichols had dedicated his career.

“I ran over there the same day, knocked on her door, and said, ‘Hi, can I talk to you?’” recalled Nichols. Before the day was out, Nichols and Grange had started hammering out plans to combine their disparate expertise, to save lives.

That was almost six years ago. In the meantime, Nichols and Grange have established a dedicated research clinic and have a clinical trial in the works to evaluate a repurposed diabetes drug as the first potential treatment for the syndrome.

They also have set up a worldwide registry of diagnosed Cantu syndrome patients, which today numbers about 100.

Most recently, the National Institutes of Health (NIH) awarded Nichols a $6.8 million grant to study a significant component of the disease.

The most noticeable sign of Cantu syndrome is unusual hairiness all over the body. The hair on such patients’ heads sometimes grows onto the forehead and face. They also suffer from heart problems and misshapen bones.

People with the syndrome have mutations in one of two genes – ABCC9 or KCNJ11– whose protein products together form a channel for potassium to flow into or out of muscle cells. The channels are embedded in the membranes of heart muscle cells, as well as the smooth muscle cells that line the blood vessels, the gut and other internal organs.

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Posted on March 6, 2018
Posted in: Neurogenetics & Transcriptomics, Neurovascular Injury & Repair, News Authors: