Healthbeat 4: Dutch descendants at risk for genetic mutation

Published: Jul. 5, 2022 at 8:29 PM CDT
Email This Link
Share on Pinterest
Share on LinkedIn

SIOUX CITY (KTIV) - It isn’t uncommon for Northwest Iowans to trace their family tree back to Dutch settlers. But those of Dutch descent, especially Frisian lineage, could be living with a hereditary genetic mutation.

The Phospholamban Protein, or PLN gene, can mutate in the heart.

“It causes some issues with your heart regulation. And it affects calcium in the heart. And basically, when there’s an imbalance of calcium regulation in the heart, it causes different issues like heart failure, cardiomyopathy, and sudden cardiac arrest in some cases,” said Lucy Borkowski.

Lucy Borkowski, a Dordt University student, is spending her summer making Northwest Iowa aware of this gene mutation. She is reaching out through social media, news media, and community groups to spread the word on what PLN is and who it affects.

“In order for you to have the PLN mutation you need to have some sort of Dutch ancestry in your family. And from there, you need to be able to trace back some heart conditions, and cardiac problems in your family,” said Borkowski. “So just because your family has a history of dying young from heart attacks, or heart failure doesn’t always mean that you might have the PLN genetic mutation.”

There is currently no cure for the PLN gene. If diagnosed, there are effective treatments.

“If you’re aware of this mutation, you can be proactive instead of reactive, you can do those heart failure treatments, you can have a surgical procedure done. And if you’re aware of it, you can increase your life expectancy and data shows that it typically increases your life by about 20 years,” said Borkowski.

Borkowski is focused on bringing awareness of the PLN gene, not diagnosing it. However, she works with people to create a family tree and connect them with a genetic counselor for initial testing.

Click here to find the Facebook page and how to get in touch with Borkowski.

Copyright 2022 KTIV. All rights reserved.