Scientists have revealed the cause of sudden death in young people

Geneticists at the University of Auckland have discovered a previously underestimated anomaly in the DMPK gene that may be linked to sudden cardiac arrest in young people. The results of the study have been published in the European Heart Journal (EHJ).

The breakthrough was made possible through the work of the Putahi Manawa centre: scientists analysed cases in three families from New Zealand and Australia whose relatives had died from sudden cardiac failure. Standard genetic tests repeatedly hit dead ends — it was impossible to establish the cause of the disease.

The researchers then applied a long-read DNA sequencing method — a technology capable of "reading" complex regions of the genome that are invisible to conventional diagnostics. This is precisely how the mutation was discovered — a so-called "repeat expansion" in the DMPK gene, associated with the development of myotonic dystrophy type 1. This hereditary disease can affect multiple body systems simultaneously, including the cardiovascular system, and is accompanied by muscle weakness.

A "repeat expansion" in a gene is a situation where the same short nucleotide sequence is reproduced multiple times within a DNA sequence. The cause may be errors during DNA copying (replication) or other molecular mechanisms.

The finding was independently confirmed by Associate Professor Richard Bagnall from Australia's Centenary Institute — he identified an analogous genetic abnormality in cases of sudden cardiac death in Australia.

The study authors insist that testing for this genetic anomaly must be included in standard screening programmes. This would make it possible to identify people at risk before critical and potentially fatal conditions develop.