A team of researchers, including scientists from the Harry Perkins Institute of Medical Research, have linked a faulty gene to the deaths of seemingly healthy children whose hearts suddenly stopped.
Last year the Perkins Neurogenetic Diseases Laboratory received DNA from a family in Scotland whose four-month-old baby had tragically suffered a cardiac arrest and died.
With the family's permission, their doctor sent the baby's DNA to the Perkins laboratory and noted that the family were expecting a second child.
Perkins researcher, Dr Gina Ravenscroft, said the team analysed the child's DNA to find possible disease-causing genes.
"We found two genetic variants in a gene called PPA2 that could be the cause of this disease, but we didn't have any other patients with variants in that gene," Dr Ravenscroft said.
Dr Ravenscroft entered the gene into a research database and found no other researchers had identified it as a disease gene.
Months later the Perkins team were contacted by genetics researchers at the French Institute of Health and Medical Research (INSERM) in Paris. The INSERM team knew of two families with similar cardiac death and mutations in PPA2.
The collaborators have been able to quickly translate their findings into a genetic screening test for future babies that might face this silent disease risk.
"Recently, the family we received the initial DNA from had their second baby and last week we screened the baby's DNA and found he only has one of the gene variants. To get the disease you need two copies and he's only carrying one so he won't get the disease," Dr Ravenscroft said.
"The screening test has also helped a family who lost two sons from sudden cardiac arrest linked to PPA2. Their two other children were screened and found to have two copies of the PPA2 mutation, so they have been fitted with implantable defibrillators. If their heart stops the defibrillator will support their heart function."
Head of the Perkins Neurogenetic Diseases Laboratory, Professor Nigel Laing AO, said his research team is dedicated to finding answers for families.
"Our job is to find as many disease genes as we can, as rapidly as possible. We're filling in the map of known disease genes and this is another step in the right direction," Professor Laing said.
The research was published in the high impact journal The American Journal of Human Genetics.
Article: Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy, Gianina Ravenscroft et al., The American Journal of Human Genetics, doi: 10.1016/j.ajhg.2016.06.021, published 11 August 2016.