Nexilin and dilated cardiomyopathy

Cardiomyopathy, a disease of the heart muscle, is one of the most common causes of heart failure in Western countries. The European Society of Cardiology (ESC) differentiates a primary or secondary form of cardiomyopathy. The primary cardiomyopathy cannot be attributed to a specific cause, such as high blood pressure, heart valve disease, coronary artery diseases or congenital heart defects. Secondary cardiomyopathy is due to specific causes and often associated with diseases involving other organs including the heart itself.
The majority of DCM cases are due to mutations in previously reported or still unknown genes rather than environmental triggers including viral infection and autoimmunity. Nexilin (NEXN) is one of these genes recently identified by our group to play a pivotal role in DCM. Furthermore, another group could reveal a functional role for NEXN in hypertrophic cardiomyopathy (HCM).
Admittedly, the molecular mechanisms leading to the initiation and development of this, often fatal disease are still unknown. In this project, we aim to provide new insights into the pathogenic mechanisms using a mammalian cardiac knockout model to more accurately recapitulate the pathology of the human DCM.
In addition, comprehensive investigations of the Nexilin protein interaction network will further emphasize the physiological relevance of Nexilin in heart development.

Beatrice Schmidt, MSc.

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