Key result
Immunohistochemical analysis showed dystrophin expression in the developing ventricular conduction system and atrial cardiomyocytes of normal 8-13 week fetuses, but absence in a 12-week DMD fetus.
Observational
Dystrophin is expressed early in the developing human ventricular conduction system and atrial cardiomyocytes, which may relate to the specific patterns of cardiac involvement seen in Duchenne muscular dystrophy.
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.
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Ginjaar et al. (1995) conducted an observational in Duchenne muscular dystrophy. Immunohistochemical analysis vs. DMD fetus was evaluated on Dystrophin expression. Immunohistochemical analysis showed dystrophin expression in the developing ventricular conduction system and atrial cardiomyocytes of normal 8-13 week fetuses, but absence in a 12-week DMD fetus.
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