Genetic testing can help explain sudden, unexplained deaths

5th April 2016

Researchers in Japan have been investigating the benefit of using genetic testing in the post mortems of people aged under 50 whose deaths were sudden and unexplained.

The team, led by Dr Yukiko Hata from the Graduate School of Medicine and Pharmaceutical Sciences at the University of Toyama, used next-generation genetic sequencing to explore genes that might have mutations responsible for their deaths.

They looked at 25 cases (21 men and 4 women aged 19–50 years) and a total of 70 genes.

Five known and 15 potentially disease causing gene mutations were identified in 14 cases. These included gene variants for cardiomyopathy, the channelopathies, fibrosis of the heart conduction system and other heart disorders.

The researchers concluded that inheritable heart diseases were a significant cause of sudden, unexplained death, even if clinical and pathological findings did not show advanced disease.

They said: “A combination of gene analysis using next generation sequencing and some predictive methods for detecting variants and careful pathological evaluation may provide a reliable diagnosis of hereditary heart disease for potential sudden unexplained death cases.”