Press Release No. 1
Berlin
Defects in Titin, the largest Human Gene, cause Chronic Congestive Heart Failure
A chronically failing human heart, inable to pump an adequate amount of blood, can be the consequence of myocardial infarctions, high blood pressure or cardiac valve disease. However, it can also occur without any obvious cause and a significant number of such cases are due to unknown gene defects. Now, Dr. Brenda Gerull and Prof. Ludwig Thierfelder (both from the Max Delbrück Center for Molecular Medicine, MDC, in Berlin-Buch and the FranzVolhard Clinic, Charité, Humboldt University, Berlin), in collaboration with researchers from Brisbane (Australia), Mannheim (Germany), and Boston (USA)* have shown that defects in the titin gene – which carries the blueprint for the largest known human protein – can lead to an inherited form of chronic congestive heart failure, a condition called familial dilated cardiomyopathy (DCM). This discovery by the MDC researchers has now been published in the prestigous journal Nature Genetics.