Researchers from Canada, South Africa and Italy have identified a new gene responsible for sudden death among young people and athletes.
The gene, a mutation of CDH2, causes arrythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that predisposes patients to cardiac arrest.
The Population Health Research Institute of McMaster and Hamilton Health Sciences performed the genetic sequencing, as well as the bioinformatics analysis for the study, led by Dr. Guillaume Paré, Associate professor at McMaster University.
The mutation of CDH2 was found to be a major cause of unexpected death in young, seemingly healthy people. CDH2 is responsible for the production of a key protein for normal adhesion between cardiac cells. Paré says the mutation is extremely rare, with chances of having it being one in one hundred-thousand.
"Everyone has CDH2," he said. "Just like every car has a transmission, only some are faulty."
He added those most at risk are individuals with a family history of sudden cardiac arrest, especially young athletes.
There are a number of notable cases related to ARVC that help place names and faces to this rare heart condition. Three professional soccer players have died as a result of ARVC-related issues including Columbus Crew midfielder Kirk Urso, Sevilla FC left wing-back Antonio Puerta and Englishman Matt Gadsby who collapsed during a game in 2006. Miss U.S.A contender Samantha Edwards died at the age of 37 just last year as a result of ARVC. English international cricketer James Taylor was also forced to retire as a result of the condition in 2016.
'This is a lifesaver for people with this disease'
"This enables us to put a diagnostic and cause for these individuals," Paré said. "Most importantly, it enables us to properly identify individuals at risk and ensure these individuals receive proper preventative care including an internal defibrillator. This is a lifesaver for people with this disease."
Hamilton's part in the discovery was substantial, something Paré says he is particularly proud of.
"I think it's important that we stay at the cutting edge and the expertise here in Hamilton and Canada to ensure we stay part of the international scientific community," Paré said. "Hopefully this will ensure that Canadians actually benefit from this as quickly as possible."
The study is a result of a 15-year collaboration, led by a South African team headed up by Bongani Mayosi. Mayosi is a professor of cardiology at the University of Cape Town and Groote Schuur Hospital.
Paré said he has tremendous respect for his South African counterpart.
"Bongani is really one of a kind, I've got so much respect for him." He said. "[He's] truly a leader in South Africa and in the world."
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Researchers from the Italian Auxological Institute of Milan and the University of Pavia also assisted, along with a team of investigators McMaster University.
Paré said working with teams around the globe is made easier because of the passion they all share to make a difference in the world.
"What glues us together is our desire to solve these problems and make progress," he said.
While the discovery came as a step in the right direction, Paré said it's important to keep things in perspective.
"We have to remember when it comes to medicine, progress is made in small steps," he said. "So for me this is a big-small step."
Paré added that while it may be small, the first step is often the most important one.
"We only need more 20 papers like this to solve the whole thing," he said. "We don't need a whole lot of these papers [and] maybe at some point we'll have a cure and be able to forget about this disease the same way we forgot about polio."
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'Real impact on patients' lives'
The discovery came as a result of a breakthrough in South Africa after 2 decades of research.
For 20 years, Prof. Mayosi followed a South African family affected by ARVC. Italian researchers narrowed down the genetic mutation responsible for CDH2 from over 13,000 common genetic variants found in two of the family members. Paré called the discovery exactly like finding a needle in a haystack.
The gene's discovery was confirmed with the discovery of a second mutation on the same gene in another patient with ARVC from a different family.
"Single biggest takeaway is that all these patients and families affected by sudden cardiac arrest" Paré said. "I think it shows all the progress and that investments being made are yielding benefits that have a real impact on patients' lives."
Paré said anyone with a family history of ARVC or sudden cardiac arrest should contact a specialist to arrange blood testing. Family members of those affected can know if they are at risk in only a few weeks.
Now, Paré is confident the international scientific community will jump in and move research along even further.
"I think what will happen is the community will take these findings and start testing their own samples… and I think we're going to gain a better understanding of these mutations," he said.
"The story will take life by itself," he said.