New research by the Victor Chang Cardiac Research Institute will allow families around the world to find out if they carry genetic mutations that cause a sudden cardiac arrest, a condition that kills nine out of 10 victims.
Researchers at the Institute have developed a new electrical test that can detect hundreds of genetic mutations to identify the exact mutations that are harmful to the heart for those suffering from inherited heart disorders, which can cause sudden death.
The breakthrough is a major step forward in the accuracy and precision of genetic testing that has profound implications not only for inherited heart disorders but also for a wide range of neurological conditions and muscle and kidney disease.
Professor Jamie Vandenberg, who led the research published in two consecutive articles in the American Journal of Human Genetics, says: number is small., the consequences are long lasting
“When a person dies young, in the prime of their life, it’s much more than the death of a person. The impact is felt in family and friends and that lasts forever.
The author, Dr. Chai-Ann Ng, of the Victor Chang Cardiac Research Institute, says that being able to identify these dangerous mutations will prevent people from dying from a sudden cardiac arrest and will ensure that more people are treated for it. life-threatening disorder.
If you can isolate the mutation and identify people at risk, there are lifestyle changes that people can make, in addition to taking beta-blockers or even using a defibrillator. Family members can also take the test.
Genetic sequencing has revealed that we all contain a wide variety of genetic variants, but we have not always been able to determine whether these variants are dangerous or not, only that they are different.
Thus, when genes are currently being tested, the clinical genetics lab may tell the patient: There is a variant, but we do not know if it increases the risk of cardiac arrest. This creates a lot of anxiety not only for the patient but also for the rest of the family who may have inherited the mutation as well. We can now eliminate this uncertainty which is a great development. “
Dr. Chai-Ann Ng, Victor Chang Cardiac Research Institute
Key statistics
- Hereditary arrhythmia disorders are found in more than half of the initially unexplained cases of sudden cardiac death in young people.
- Around 20,000 Australians suffer a cardiac arrest outside a hospital each year. Only 10% of people will survive an outpatient cardiac arrest.
Professor Vandenberg’s team investigated variants in genes that encode ion channels, which are proteins that control the movement of electrical signals between cells. Most genetic disorders that cause an increased risk of sudden cardiac arrest are caused by these mutations.
Key findings
- In the first study, they developed a rapid and accurate electrical test that evaluates variants of an ion channel gene that causes an inherited cardiac arrhythmia called long QT syndrome type 2. They are now classifying all known variants of this gene to determine what they are. benign and dangerous and will upload the findings to a giant genetic database that will be accessible to doctors around the world.
- The test they have developed can be easily adapted to test for other ion channel genes, not just those associated with sudden cardiac arrest, but a wide range of other diseases that include neurological, kidney, and muscle disorders.
- In the second article, Professor Vandenberg and his team collaborated with Dr. Kroncke of Vanderbilt University Medical Center to develop a new method based on high-throughput genome sequencing technology. This will allow them to assess the impact of all possible missense variants on KCNH2, amounting to approximately 22,000 variants, in one or two years.
Impact
Professor Vandenberg says: “We hope that within five years, as soon as someone does their gene tests or sequences their genomes, they will immediately find out if their variant is dangerous.
“It’s amazing to be able to examine family members not just in Australia but anywhere in the world and diagnose them. Ultimately, this genetic database will reduce the number of cardiac arrests and deaths caused by genetic disorders. .
“In the short term, it is cardiology patients who are most likely to benefit from sudden death. But in the long term, research can be adapted to assess any of the approximately 400 different ion channels genes in the human genome that are associated. with a wide range of neuronal disorders, muscle and kidney problems “.
Source:
Victor Chang Cardiac Research Institute