Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Duchenne and Becker muscular dystrophies (DMD/BMD) result in progressive weakness of skeletal and cardiac muscles due to the deficiency of functional dystrophin. Respiratory failure is a leading cause of mortality in DMD patients; however, improved management of the respiratory symptoms have increased patients' life expectancy, thereby also increasing the clinical relevance of heart disease. In fact, the prevalence of cardiomyopathy, which significantly contributes to mortality in DMD patients, increases with age and disease progression, so that over 95% of adult patients has cardiomyopathy signs. We here review the current literature featuring the metabolic alterations observed in the dystrophic heart of the mdx mouse, i.e., the best-studied animal model of the disease, and discuss their pathophysiological role in the DMD heart. It is well assessed that dystrophin deficiency is associated with pathological alterations of lipid metabolism, intracellular calcium levels, neuronal nitric oxide (NO) synthase localization, and NO and reactive oxygen species production. These metabolic stressors contribute to impair the function of the cardiac mitochondrial bulk, which has a relevant pathophysiological role in the development of cardiomyopathy. In fact, mitochondrial dysfunction becomes more severe as the dystrophic process progresses, thereby indicating it may be both the cause and the consequence of the dystrophic process in the DMD heart.
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PMID:Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies. 3181 15

Induced pluripotent stem cells (iPSCs) are reprogrammed somatic cells by defined factors, and have great application potentials in tissue regeneration and disease modeling. Biomaterials have been widely used in stem cell-based studies, and are involved in human iPSCs based studies, but they were not enough emphasized and recognized. Biomaterials can mimic the extracellular matrix and microenvironment, and act as powerful tools to promote iPSCs proliferation, differentiation, maturation, and migration. Many classic and advanced biofabrication technologies, such as cell-sheet approach, electrospinning, and 3D-bioprinting, are used to provide physical cues in macro-/micro-patterning, and in combination with other biological factors to support iPSCs applications. In this review, we highlight the biomaterials and fabrication technologies used in human iPSC-based tissue engineering to model neuromyopathic diseases, particularly those with genetic mutations, such as Duchenne Muscular Dystrophy (DMD), Congenital Heart Diseases (CHD) and Alzheimer's disease (AD).
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PMID:Biomaterials and Advanced Biofabrication Techniques in hiPSCs Based Neuromyopathic Disease Modeling. 3185 Mar 31


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