Professor Yasuki Kihara and Professor Kazuaki Chayama of Hiroshima University have discovered a gene that reduces the risk of developing Brugada syndrome in collaboration with RIKEN.It may help prevent sudden death and prevent unnecessary treatment.

 Brugada syndrome is a disease that affects 2 in 1 people and usually has no symptoms, but it is also called Pockli's disease because it causes sudden death due to arrhythmia.In recent years, it has become possible to detect it early from electrocardiograms, etc., and treatment such as implanting a defibrillator is performed to prevent sudden death.However, the risk prediction of sudden death has not been established, and it is thought that there are cases where treatment with a defibrillator is performed even in cases where treatment is not required.If high-risk and low-risk selection can be performed accurately, it will not put unnecessary burden on the patient's body and will lead to reduction of medical expenses.

 Recent studies suggest that mutations in the gene HEY2, which is involved in cardiac development, may increase the risk of sudden death.Therefore, in this study, we investigated the presence or absence of mutations in the HEY95 gene in 1978 people with Brugada syndrome and 2 healthy people.The results showed that patients with Brugada syndrome had a higher rate of carrying the mutated gene, especially those with potentially fatal arrhythmias.The patient was followed up for about 3 to 7 years.As a result, it was found that people who are mutated contrary to previous predictions tend to suppress the development of lethal arrhythmias.

 This finding reveals that mutations in genes that were previously thought to increase risk may actually reduce the risk of death.In the future, we aim to establish a risk assessment method based on this result.It is also expected to be a discovery that will lead to the development of drugs for the prevention of sudden death.

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