HCHS graduate is raising awareness of genetic mutation prevalent in the Dutch
SIOUX CENTER—Lucy Borkowski had never heard of the mutation in the phospholamban gene, or PLN gene, which can cause serious heart problems and even death.
It is prevalent in areas where there are large numbers of people with Dutch heritage.
Last summer, Borkowski was hired by Dordt University’s Kielstra Center for Research and Grants in Sioux Center as a summer research assistant, and she was assigned to the PLN Dutch Gene Mutation Project.
Borkowski is a senior biology public health major with an emphasis on public health, and the central goal of the PLN Project was to raise awareness about the mutation in North America.
“My main thing was no one knew anything about it — I didn’t know anything about it. So, it’s just like starting at ground zero,” said the 21-year-old Harlan native.
Borkowski was hired in August by the PLN Heart Foundation in the Netherlands to continue raising awareness of the little-known mutation in North America. Her work last summer was overseen by Dordt nursing director Dr. Deb Bomgaars and Dordt biology professor Dr. Tony Jelsma, who are both ancestrally Dutch. Several people in Bomgaars’ family are carriers of the mutation, and Jelsma’s family has a history of heart problems, although testing revealed the PLN gene mutilation is not the cause.
“It originated in Friesland in the Netherlands, and they were like, ‘Oh, we’re in a Dutch pocket — we should have somebody raise awareness of it around here because it could be affecting community members,’” Borkowski said.
Friesland is a southern province in the Netherlands, and it is where the PLN gene mutation first appeared around 700 years ago. The mutation is a deletion of the part of the PLN gene that encodes an amino acid, arginine, an important building block of the PLN protein. The protein plays an important role in the regulation of heart muscle function.
Carriers of the gene may be asymptomatic — without symptoms — but by the age of 70, half of those who carry the mutation report serious heart-related concerns. There is no clear reason why some carriers exhibit symptoms, and some do not, but for those who do, the onset of symptoms typically happens sometime between the ages of 20 and 50.
Jelsma said education is the first step.
“Dordt is well-positioned to reach out to the various Dutch communities — because there is no nationalized health care in the U.S. and because this is primarily a Dutch mutation, it’s not known at all outside the Netherlands, even by the medical community, which is why Lucy reached out to them as well,” Jelsma said.
There is no cure for the mutation, so carriers receive standard treatments appropriate to any symptoms they develop, which may include reduced stamina, shortness of breath, abnormal heart rhythm or cardiac failure. Ultimately, the mutation can lead to sudden cardiac death.
“Before Lucy’s project, the PLN organization only knew of about 20 individuals in the U.S. who had the condition,” Jelsma said. “That number has now tripled. It’s still not a big number but this project is ongoing, and names keep trickling in.”
Borkowski hit the ground running last year, creating a Facebook page titled “PLN Genetic Mutation Awareness,” which she uses to raise awareness and educate followers. It also has proved an important tool for making connections with those who know they are carriers or suspect they might be but are unsure what to do next.
“It’s definitely made me more
aware of the different health-care concerns in the world. I took genetics class, and we talked about
mutations, but now I’m actually interacting with people that have this mutation, and it’s affecting their lives,” Borkowski said.
“It’s like, ‘What can I do to be the support that they need?’ I’ve prayed with people after they’re like, ‘I got the news.’ On a phone call, they’re crying, and I’m like, ‘Hey, what can I do? Can I pray for you right now, and walk you through this situation?’ Because it’s definitely not ideal — and it’s scary.”
When Borkowski is contacted by people concerned they or their family members may be carriers of the mutation, she often refers them to genetic counselors at Sanford Health in Sioux Falls, SD. She said genetic testing can reveal the presence of the mutation, and if certain criteria are met, the cost is covered by insurance.
“There’s a single gene test, which is cheaper, but it just tests one gene, and a lot of times, if you have one gene, other cardiomyopathy genetic mutations might be present, and it can be helpful to know that,” she said.
Cardiomyopathy refers to problems with the heart muscle that affect its ability to pump blood well. Instead of a single-gene test, Borkowski encourages many people she offers counsel to consider a gene panel, which looks for variants in more than one gene.
Creating a Facebook page set off a wave of interest, and so far, PLN Genetic Mutation Awareness has upward of 300 followers.
“Once it started, it really did take off. I feel like it was two weeks, and people were e-mailing, calling — the numbers of Facebook ‘likes’ was just going up,” Borkowski said. “I have a spreadsheet of everyone who’s contacted me about it, and I keep track of their name, contact information. That way, I can reach back out to them if they have questions or follow up as well. What I’m starting to work on this summer is, ‘OK, you reached out to me last summer about it. Now, let’s follow up and see if there’s anything else that I can do for you.’”
Borkowski’s awareness-raising efforts have been multipronged. Along with using social media platforms like Facebook and LinkedIn, she has an e-mail newsletter that has grown its following by word-of-mouth, gaining five to 10 new subscribers each month. Borkowski also has contacted each of the Christian Reformed Churches in the region, knowing the denomination is home to a high proportion of ancestrally Dutch members.
“I do a lot of church bulletins,” she said.
Borkowski also has given presentations to help educate the medical community about the PLN mutation, including through a co-presentation last summer at Sioux Center Health with Dr. Leo Jansen, an orthopedic surgeon who is himself a carrier of the mutation.
She said the medical providers she has talked to are uniformly surprised to learn about the mutation.
“Most of them have never heard of it,” she said.
Borkowski has expanded her awareness-raising efforts to include Dutch pockets across North America, including western Michigan; Lynden, WA; Minnesota; Indiana; British Columbia and western Ontario.
“I have been in contact with people in Linden, their newspapers, and in Grand Rapids — some of their doctors I’m trying to get connected with,” she said.
After her 10-week run as a research assistant last summer, Borkowski was not ready to set the work aside. She contacted the PLN Heart Foundation, which helps fund research related to the mutation.
“I found the foundation, and I reached out to them and got into contact with the head person — I have called the lady that discovered the mutation herself,” Borkowski said.
Dr. Litsa Kranias, who does research at the University of Cincinnati, discovered the mutation in 2006 during a research trip to Greece, where the mutation also appeared and has been passed down for centuries.
As one of the organization’s North American liaisons, Borkowski has begun to collaborate with her Dutch counterpart in the Netherlands, who is developing strategic and creative ways to continue to get the word out across the Atlantic. However, along with raising awareness comes other responsibilities.
Borkowski often finds herself offering counsel, guiding people to the right resources when they are considering testing — or dealing with its aftermath.
Genetically speaking, the PLN mutation is a dominant mutation, meaning a parent has a 50-50 chance of passing it to her or his children. If the child receives the chromosome containing the deletion, that child is considered a carrier. Furthermore, the mutation is not sex-linked, meaning the gene is not located on the X or Y chromosomes. The chance a child will inherit the mutation is equal for males and females.
“The biggest issue or concern people have is getting genetic testing,” Borkowski said.
Some people’s concerns are privacy related, and she does her best to ensure them that the results of their genetic testing will remain strictly confidential.
“Then the other aspect of it is: ‘Do I want to know I have it? What if I pass this on to my kids? Should I have children? Should we adopt?’” she said.
The prospect of learning potentially life-changing information unleashes a cascade of questions.
Borkowski said she understands hesitation to get tested, but ultimately, she thinks the benefits of knowing outweigh the possible drawbacks, which for known carriers can include anxiety about whether or when symptoms may appear.
“But if you know you’re a carrier, as you go throughout your life, you can do some lifestyle changes — you can start receiving specified treatments for the symptoms earlier, rather than later,” she said.
Borkowski traveled in May to Athens, Greece, where she was invited to present at the biannual consortium of the PLN Heart Foundation. Research teams from around the world convened to discuss their progress and share ideas about possible cures, and the youngest presenter, Borkowski, gave them an update about her experience raising awareness on the ground in North America.
She also got to take part in a closed-door session, where teams of researchers from around the world discussed their latest research developments.
“They’re working on treatments, but they’re really focusing on cures,” Borkowski said.
The cures under discussion included gene therapy techniques like mitochondrial gene editing and RNA deletion — efforts to address the mutation itself rather than treat its symptoms.
Borkowski is hard at work completing applications for physical therapy school next year, but she said she has plenty of work ahead of her before she embarks on a new adventure.
“It’s just been an incredible opportunity,” she said. “I don’t think when Dr. Bomgaars hired me to do this they thought it would take off like it did — and it’s still going. Each day, something new comes up.”
FOR MORE INFO:
To learn more about the PLN genetic mutation or for resources related to genetic counseling and testing, e-mail Lucy Borkowski at firstname.lastname@example.org or send a message to the PLN Genetic Mutation Awareness page on Facebook.