Dystrophin expression in the developing conduction system of the human heart

Duchenne muscular dystrophy (DMD) is frequently associated with myocardial involvement. Dystrophin, the DMD protein, is found at the plasmamembrane of striated muscle fibers. Although dystrophin is missing in most or all muscle fibers of DMD patients, cardiac muscle is not as severely affected as skeletal muscle. Therefore it is of great importance to study the expression of dystrophin in normal cardiac muscle. We performed immunohistochemical studies and examined cardiac muscle of fetuses of 8 to 13 weeks of development on dystrophin expression. At these stages dystrophin is observed in the myocytes of the developing ventricular conduction system and in the atrial cardiomyocytes. Dystrophin was absent from the heart of a 12-week-old DMD fetus