Scientists Are One Step Closer to Understanding Sudden Cardiac Death

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Arrhythmogenic cardiomyopathy, a heart disease that particularly affects young athletes, can result in sudden death. The University of Basel has recently genetically modified mice that develop a disease comparable to that found in humans. The team was able to identify previously undiscovered mechani

Sudden cardiac arrest is a potentially fatal condition in which your heart suddenly stops beating.

Fans of the soccer team Sevilla FC will never forget the August 2007 game when 22-year-old Antonio Puerta went into cardiac arrest, collapsed on the field, and eventually passed away in the hospital. The athlete was later found to be suffering from a condition known as arrhythmogenic cardiomyopathy. Today, it is recognized that a number of gene mutations can trigger the condition. There is no treatment, even with an early diagnosis; only symptom management options are available.

To test this hypothesis, Spindler’s team introduced a mutation similar to that found in patients into the genome of mice. The cardiac function of these animals was then examined by Kuster’s group. The result: the genetically modified animals showed a heart disease with arrhythmia that resembled arrhythmogenic cardiomyopathy in humans. In addition, microscopic and biochemical analysis indeed showed reduced adhesion between the cardiac muscle cells.

 

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