Nfld. & Labrador

Genetic mutation shared by Newfoundland, German, Danish families

Researchers studying a genetic mutation, which causes sudden cardiac death, may have discovered a genetic link between German, Danish and Newfoundland families.

Gene mutation causes sudden cardiac death

Dr. Hendrick Milting says a genetic mutation carried by several Newfoundland families matches a genetic mutation he has been studying in a German family. (CBC)

Researchers studying a genetic mutation, which causes sudden cardiac death, may have discovered a genetic link between German, Danish and Newfoundland families.

Dr. Hendrick Milting, a genetics researcher at the Heart and Diabetes Center North Rhine-Westphalia in Bad Oeynhausen, Germany, has been doing work with a gene mutation for arrhythmogenic right ventricular, or ARVC, a form of heart disease that usually appears in early adulthood and causes sudden cardiac death. 

It has affected many members of a German family.

That mutation is the same one that genetic researchers at Memorial University identified in 2008 as affecting 24 Newfoundland families — adding up to 1,200 people over several generations.

Not only did Milting discover the Newfoundland research, he also found a similar mutation in a Danish family.

"By chance at the same time, a group in Copenhagen found a similar family in Denmark. We decided to make a genetic fingerprint of these families and we found that all these families are connected," said Milting.

"So they have a common root."

Working with experts at Memorial University

Milting has come to Memorial University to work with genetic researchers Dr. Kathy Hodgkinson, Dr. Terry Lynn Young, and Dr. Sean Connors at the Faculty of Medicine. 

He has also planned to meet with history, folklore, geography, and anthropology experts to try to find out more about how the German and Danish families could be linked to the Newfoundland family, which, like many Newfoundland families, was thought to be of English and Irish descent.

"What we have is a piece of DNA that gives us history written in a DNA code," said Hodgkinson.

"All these families are related somehow."

Memorial research may help German patients

Milting, who works at one of the world's leading heart institutes, said the research on AVRC done at Memorial may lead to making fewer heart transplants neccessary at his institute.

At Memorial, doctors have implanted artificial pacemakers in the chests of people affected by the genetic mutation to prevent sudden death. Milting said his institute is learning from what local doctors have been doing. 

Both Milting and Hodgkinson agreed that the German family has been relieved to find that more people elsewhere in the world have been facing the same medical condition, and that other researchers have been working on the disease.

"The German family has gained great comfort from knowing that they are not alone,"  said Hodgkinson.