Press Release No. 10
Berlin
Cancer and Cardiovascular Researchers Discover Disease Gene for Cardiac Arrhythmia Disorder
Cancer and cardiovascular researchers at the Max Delbrück Center for Molecular Medicine (MDC) in Berlin-Buch have discovered a disease gene which, when altered (mutated), can cause cardiac arrhythmias. The gene, located on chromosome 12, contains the blueprint for the protein plakophilin 2, an important component of cell membrane complexes (desmosomes). Desmosomes are essential for normal heart development in that they connect heart cells with each other and sustain their functioning. Dr. Brenda Gerull and Professor Ludwig Thierfelder, both at the MDC and the Helios Clinic Berlin/Charité - University Medical Center Berlin, examined patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a specific kind of myocardial disease. The researchers found that in about 25 to 30 percent of the ARVC patients, the plakophilin 2 gene is mutated. However, it is not clear why symptoms vary greatly in severity among those carrying the mutated gene. While some patients develop a life-threatening illness, others hardly experience any discomfort at all. Even children and adolescents can be affected by cardiac arrhythmias if they have inherited the mutated gene. The cancer researchers at the MDC, Katja Grossmann and Professor Walter Birchmeier, had given the heart researchers a lead by demonstrating that the hearts of mice which lack plakophilin 2 literally break. The studies have been published online in Nature Genetics* (October 17, 2004) as well as in the Journal of Cell Biology (Vol. 167, Issue 1, October 11, 2004, pp. 149-160)*.