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Dordt University Student: Raising awareness of a genetic mutation affecting Dutch individuals

Written by: Lucy Borkowski, a student at Dordt University in Sioux Center, IA

Are you proud of your Dutch ancestry and all of the family traditions associated with the

Dutch culture? It is great to be Dutch; however, in areas where there is a large population of

Dutch people, there is a high prevalence of a PLN genetic mutation, which is associated with

heart regulation. For our hearts to beat, calcium ions must be present in the cardiac cells, and

phospholamban, a protein encoded by PLN, regulates calcium levels in the heart. A recent

mutation in PLN was discovered in 2010 in the Netherlands, and patients who have this suffer

from heart failure, cardiomyopathy, and sudden cardiac death.

As of right now, there is no treatment or cure for the PLN mutation other than standard

heart failure treatment. Taking certain precautionary steps may mitigate the effects of this heart condition. Medications, like beta-blockers, can lessen the strain on the heart by slowing the heart rate. An implantable cardioverter-defibrillator (ICD) can be inserted to monitor heart

rhythms, pace the heart back to a regular rhythm, or administer shocks in the event of a deadly rhythm. Similarly, catheter ablation can be inserted through a blood vessel and into the heart to treat abnormal heartbeats. These treatments and heart transplantation are some methods of lowering the additional stress on the heart caused by PLN.

If you are interested in knowing if you have the mutation, the first step is to examine your

family history. Since the PLN mutation is a hereditary disease, an affected individual has a 50% chance of passing the predisposition on to their children. Typically, the effect of the PLN

mutation is not seen until people enter their middle-aged years, so looking for family members

who passed away unexpectedly from heart failure would be a good indication you might want to seek professional guidance. The next step would be to see your doctor, set up an appointment with a genetic counselor, and complete genetic testing.

To receive genetic testing, a genetic counselor will help you complete analysis of your

DNA. After receiving your test results, you should seek advice from your counselor and

cardiologist. If your results are negative, that does not mean you do not have the PLN mutation; you just do not currently exhibit the mutation and should retest your genes in the future. If you test positive for the PLN mutation, cardiologists recommend that you undergo cardiac screenings. It is also good to inform family members of your genetic condition as they might also possess the PLN mutant.

Finally, it can be difficult to grasp your medical condition and be joyful about your future

knowing that you live with a mutation affecting your heart. Reaching out to close friends and

relatives is another way to stay connected with people you love and remain grounded in

ordinary life. Remember, God has a plan for everything, and trusting in Him can bring joy amid

uncertainty. He alone designed the human heart, and we give glory to Him every time our hearts beat.

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Heart Health & Dordt University – Here’s a chance for you to learn more about your heart health, and to help raise awareness for others at the same time! Recently, a mutation in the PLN gene encoding for cardiac muscle cell regulation has been discovered to affect individuals with Dutch ancestry. Since it is a genetic condition, the PLN mutation is passed along from generation to generation, and carriers of the mutation may experience a decreased lifespan as well as cardiac heart failure symptoms. A research group at Dordt University is developing a study to raise awareness of this mutation and to help people understand the impacts of the mutation on families. If you are interested in learning more about PLN and its effects, please contact Lucy Borkowski at and follow the PLN Genetic Mutation Awareness Facebook Page.

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