Two Professors Raise Awareness around Genetic Mutation

Two Dordt University professors are working to raise awareness regarding a genetic mutation in the phospholamban (PLN) gene, which can cause heart arrhythmias and possible cardiac death in people of Frisian descent.

Professor of Biology Dr. Tony Jelsma says that genetic studies have shown the mutation first appeared somewhere in the province of Friesland, Netherlands, around 700 years ago. The mutation can show itself in several ways throughout a person’s life; primarily, PLN disrupts the rhythm of a person’s heart.

Several symptoms can result from the disease, including:

• reduced stamina
• shortness of breath
• arrhythmias
• heart rate surges
• and full cardiac arrest

Some individuals show no symptoms and are simply carriers, but that doesn’t make it any less serious. The disease is hereditary, meaning it can be passed on to a person’s children—and their case might not be asymptomatic.

Jelsma and Professor of Nursing Dr. Deb Bomgaars say that their families have a history of heart problems; a member of Bomgaars’ family was confirmed to have the mutation, and Jelsma is trying to encourage his family to get tested. They’ve taken it upon themselves to partner with Dr. Leo Dean Jansen, a physician and administrator for the PLN Heart Foundation—and a PLN carrier himself—to help raise awareness for this dangerous mutation.

One of their biggest goals? To get people talking to their doctors—and ultimately, to get people tested for this disease.

“There is no cure yet, but there are things you can do,” Jelsma says.

“It’s not just about you, it’s about your family,” adds Bomgaars.

If you are of Dutch descent and have a family history of heart problems, please consider bringing this up with your doctor. For more information, visit en.pln.heart.org.

As an institution of higher education committed to the Reformed Christian perspective, Dordt University seeks to equip students, faculty, alumni, and the broader community to work toward Christ-centered renewal in all aspects of contemporary life. Dordt is a comprehensive college named to the best college lists by Wall Street Journal, U.S. News & World Report, Forbes.com, Washington Monthly, and Princeton Review. To learn more about Dordt, visit www.dordt.edu.