Abstract
Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy. These so-called dystrophinopathies are characterized by skeletal muscle weakness and degeneration. Dystrophin deficiency also gives rise to considerable complications in the heart, including cardiomyopathy development and arrhythmias. The current understanding of the pathomechanisms in the dystrophic heart is limited, but there is growing evidence that dysfunctional voltage-dependent ion channels in dystrophin-deficient cardiomyocytes play a significant role. Herein, we summarize the current knowledge about abnormalities in voltage-dependent sarcolemmal ion channel properties in the dystrophic heart, and discuss the potentially underlying mechanisms, as well as their pathophysiological relevance.
Highlights
Dystrophin deficiency causes diseases, the so-called “dystrophinopathies”, with progressive muscle weakness and cycles of muscle necrosis and regeneration representing the pathophysiological hallmarks [1]
While Duchenne muscular dystrophy (DMD) is characterized by the absence of dystrophin, mutations that result in the retention of a partly functional dystrophin gene product are characteristic for the less severe dystrophinopathy type, called Becker muscular dystrophy (BMD)
We review the current knowledge about the abnormalities in the voltage-dependent sarcolemmal sodium, calcium, and potassium channels in the dystrophic heart
Summary
Dystrophin deficiency causes diseases, the so-called “dystrophinopathies”, with progressive muscle weakness and cycles of muscle necrosis and regeneration representing the pathophysiological hallmarks [1]. It has become apparent that the functional properties of voltage-dependent sarcolemmal ion channels are significantly disturbed in dystrophin-deficient cardiomyocytes, and relevance for the pathophysiology in the dystrophic heart has been suggested. These ion channel abnormalities are likely connected with the fact that several channels directly interact with protein members of the DAPC (e.g., [27,28,29]), and can be considered DAPC members themselves. Other ion channels with potential relevance in dystrophic cardiomyopathy, such as for example transient receptor potential (TRP) channels [30,31] or the K(ATP) channel [32], are not considered
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