Genetic mutation shared by Newfoundland, German, Danish families

Posted: May 1, 2013 at 6:43 am

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."

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.

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Genetic mutation shared by Newfoundland, German, Danish families

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