MRI brain scan

Genetics could hold key to stroke in young people

Having a stroke before the age of 50 is a red flag for researchers. Could genetics be to blame?

Jenny Jay

On paper, Jenny Jay should not have had a stroke. She was active, never smoked, ate a healthy diet. And she was only 19 years old.

In fact, when Jenny arrived by ambulance at Whitehorse General Hospital last May with a fever of 104 and no feeling on the left side of her body, doctors first thought she was experiencing symptoms of meningitis or a possible infection that had spread to her brain. They ran test after test, eventually pinpointing the real cause: a migraine-induced stroke.

Having a stroke before the age of 50 is unusual, says researcher and geneticist Dr. Guillaume Paré. Stroke risk typically increases with age and is made worse by factors including high blood pressure, high cholesterol and smoking.

When it happens to someone young like Jenny, who is living with few risk factors, there’s a possibility that a genetic mutation could be the cause.

Researchers have discovered 10 genes that are associated with stroke. What if they could isolate the genes that put apparently healthy young people at risk of stroke? That’s what Dr. Paré and his research team at McMaster University are trying to do, supported by funds from Heart and Stroke Foundation donors. 

They’ve already homed in on one mutation known as Notch 3, which shows up in many stroke survivors. Dr. Paré and his team believe it could explain a number of young stroke cases.

An estimated 0.3 per cent of Canadians – nearly 100,000 people – are living with the Notch 3 mutation. It increases stroke risk 2-3 fold, and makes carriers more vulnerable to hemorrhagic stroke, considered the more deadly type of stroke because there are fewer treatments available.

While it’s still too early to ask your doctor to screen you for genetic risk, eventually a simple blood test could diagnose at-risk patients. But to get there, researchers will first need to pinpoint more genes that increase risk; Notch 3 is the first of several mutations that still need to be identified.

Learn your family history

What can you do in the meantime? As researchers try to discover more about these genes, learning your family history may be your safest bet when it comes to understanding your risk of stroke and heart disease.

Dr. Guillaume Pare

Watch Dr. Paré describe his genetic research.

Dr. Paré stresses that if you or someone you know has a family history of stroke (or heart disease), you can improve your outcomes considerably by making simple lifestyle changes that include eating healthy foods, moving more and being smoke free.    If a first-degree relative – a parent, sibling or child – has experienced a stroke before the age of 50, you’re likely also at risk.  

It’s not known what role genetics played in Jenny’s stroke. But she does feel that more understanding of her family’s health history could only help.

“I definitely think if you’re at higher risk of having a stroke at a young age, it would be eye-opening to know that information,” she says. “It could be valuable in the same way that someone who is allergic to bees knows to carry an EpiPen with them.”

What about patients without a complete picture of their family history? Genetic screening will eventually help fill in the gaps. Once we have a better understanding of the genes behind early stroke risk, Dr. Paré explains, doctors will be able to identify at-risk patients easily, and ensure that they’re aware of the risks and vigilant about maintaining a healthy lifestyle.

Moving on up

Since her stroke, Jenny has made an incredibly fast recovery – something she credits to working with an occupational therapist.

UK Three Peaks Challenge, stroke survivor, stroke in young adults

Stroke survivor Jenny Jay (centre) tackles the UK Three Peaks Challenge with two close friends.

Her dream to travel the world hasn’t been dampened. By the time the first anniversary of her stroke rolled around, Jenny was exploring England.

To celebrate her recovery, she decided to climb three of the UK’s highest peaks, while fundraising for the Heart and Stroke Foundation to help create even more survivors.

Watch Jenny’s inspiring journey here.


5 Responses

  1. Marj

    It’s ironic that I should read this article today , My nephew who was 49 died of a heart attack yesterday,He never smoked,drank and was very active,His father died of a heart attack at 55.He smoked ,drank and did not look after himself.The men in our family seem to all have some heart problems The girls seem to be healthier . We were a large family of ten.interesting article,

    1. Sharon Hollingsworth

      Hello Marj,
      I am so sorry to learn of your nephew’s untimely death from a heart attack. This kind of sudden loss is all the more difficult when it happens to someone who is living a healthy life with no obvious risk factors. But as you read in the blog post, family history certainly is an important factor as well as the possibility of a genetic defect. Thank you for taking the time to post a comment, and please pass on my condolences to your family members on the loss of their loved one.
      Sharon at the Heart and Stroke Foundation

  2. Tammy Kawala

    I have risk factors both my Mom and Dad have had strokes and my Mom heart attack. I am concerned that I am at risk. Is there a way I could be a part of the study?

    1. Sharon Hollingsworth

      Hi Tammy,
      Excellent question! I’m not sure how far along the process of selecting candidates for this study is, but I will drop a note to the person in B.C. who has direct access to Dr. Clew, and will get back to you as soon as I can with further information.

      Thanks for getting in touch and for your interest in the Heart and Stroke Foundation blog, Tammy. Hope you’re having a great day.

      Sincerely, Sharon at the Heart and Stroke Foundation

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