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Researchers Discover Gene Responsible for Deadly Heart Condition

Researchers Discover Gene Responsible for Deadly Heart Condition


St. John’s, Newfoundland and Labrador:Researchers at Memorial University have discovered the gene responsible for ARVC (arrhythmogenic right ventricular cardiomyopathy), a deadly genetic heart condition highly prevalent in Newfoundland and Labrador.  As a result of this discovery, doctors are already performing life-saving interventions to those with this deadly condition. 

See the video of the press conference for this discovery, including comments from the families involved in the study.

"Men don’t live long in our family…"

In fact, according to Kathy Hodgkinson, "clinical information collected from affected families indicates that only half of male carriers survived to 41 years of age".  But now, an interdisciplinary research team in cardiac genetics from Memorial University of Newfoundland, led by Drs. Terry Lynn Young (molecular geneticist), Patrick Parfrey (Clinical Epidemiologist) and Sean Connors (Cardiologist) has identified the genetic cause of the disease.  This discovery, published in today’s online American Journal of Human Genetics (co-first authors Nancy Merner and Kathy Hodgkinson), could lead to more interventions and, eventually, a cure for this deadly disease.

"Before now, the location of the gene associated with the disease was known to be on a specific but rather large region of chromosome 3."  Commented Dr. Terry Young, Molecular Geneticist, "We sequenced the 20 genes in this critical disease region, and found a mutation in a novel gene (entitled TMEM43) in all clinically affected family members.  The gene codes for a protein in the membrane of the cardiac cell, but its function is currently unknown".   As a result of this discovery researchers will further investigate this gene for other forms of heart disease.

Over several years the team has used the knowledge of the gene’s location on chromosome 3 to identify carriers of the lethal mutation.  Defibrillators have been implanted in adult carriers and on development of ventricular fibrillation, (the event causing sudden death); a shock has been delivered to the patient’s heart, thus reversing the ventricular fibrillation.  "We have inserted nearly a hundred defibrillators in mutation carriers, and clearly demonstrated that lives were saved.  In fact survival after defibrillator implantation was excellent compared to those who did not receive a defibrillator" reported Cardiologist Dr. Sean Connors.

The strategic plan for Clinical Research at Memorial University and Eastern Health has identified genetic disease research as its priority, and has established an interdisciplinary research team in human genetics to ascertain families with genetic disease; to determine their genetic cause; to examine the ethical, economic, environmental, legal and social issues associated with the application of genetic tests in the community; and to determine the impact of genetic and clinical screening programs in the community. 

"The sudden cardiac death project is a successful example of research deriving from this approach in which genetic counselors, molecular geneticists, clinical epidemiologists, cardiologists, philosophers, and health policy experts have functioned as a team and coalesced around trying to solve a major clinical problem", commented Dr. Parfrey, clinical epidemiologist.

The Sudden Cardiac Death Research has been funded by Genome Canada/Genome Atlantic, Canadian Institute for Health Research, Canadian Foundation for Innovation, The Janeway Hospital Foundation, the Government of NL and St. Jude Medical.  Collaborators included Dr. Ludwig Thierfelder at the Max-Delbruck- Centrum fur Molekulare Medizin in Berlin, Dr. William McKenna at the Heart Hospital in London, England, and Dr. Anne Bassett at The University of Toronto.

ARVC is one of 33 genetic conditions being researched as part of the Atlantic Medical Genetics and Genomics Initiative (AMGGI).  AMGGI, which is managed by Genome Atlantic, is a unique initiative to systematically identify genes and genetic mutations underlying familial, monogenic disorders arising in populations and communities throughout the Atlantic Provinces.

The research program links human genetic research efforts in Newfoundland, based at Memorial University, with activities encompassing the three Maritime Provinces centred at Dalhousie University. This Genome Atlantic managed project was made possible through funding by: Genome Canada,  the Nova Scotia Health Research Foundation, Dalhousie University, Nova Scotia Research Innovation Trust, IWK Health Centre, Capital District Health Authority, Glaucoma Research Foundation, Memorial University Faculty of Medicine, National Institutes of Health (USA), Marshfield Clinic, Janeway Childrens Hospital Foundation, Newfoundland and Labrador Centre for Applied Health Research, Department of Health and Community Services, St. Jude Medical, Canadian Helicopters, Industrial Research and Innovation Fund NL, Memorial University Faculty of Medicine (ORGS) and Memorial University VP. 

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