Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype
AbstractDuchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XL-DCM) consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM) is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC) that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts. View Full-Text
Scifeed alert for new publicationsNever miss any articles matching your research from any publisher
- Get alerts for new papers matching your research
- Find out the new papers from selected authors
- Updated daily for 49'000+ journals and 6000+ publishers
- Define your Scifeed now
Tsuda, T.; Fitzgerald, K.K. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype. J. Cardiovasc. Dev. Dis. 2017, 4, 14.
Tsuda T, Fitzgerald KK. Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype. Journal of Cardiovascular Development and Disease. 2017; 4(3):14.Chicago/Turabian Style
Tsuda, Takeshi; Fitzgerald, Kristi K. 2017. "Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype." J. Cardiovasc. Dev. Dis. 4, no. 3: 14.
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.