About: Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy

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About: Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
Creator	Betts, Corinne Wood, Matthew Van Westering, Tirsa
Source	PMC
abstract	Duchenne muscular dystrophy (DMD) is a genetic muscle disorder caused by mutations in the Dmd gene resulting in the loss of the protein dystrophin. Patients do not only experience skeletal muscle degeneration, but also develop severe cardiomyopathy by their second decade, one of the main causes of death. The absence of dystrophin in the heart renders cardiomyocytes more sensitive to stretch-induced damage. Moreover, it pathologically alters intracellular calcium (Ca(2+)) concentration, neuronal nitric oxide synthase (nNOS) localization and mitochondrial function and leads to inflammation and necrosis, all contributing to the development of cardiomyopathy. Current therapies only treat symptoms and therefore the need for targeting the genetic defect is immense. Several preclinical therapies are undergoing development, including utrophin up-regulation, stop codon read-through therapy, viral gene therapy, cell-based therapy and exon skipping. Some of these therapies are undergoing clinical trials, but these have predominantly focused on skeletal muscle correction. However, improving skeletal muscle function without addressing cardiac aspects of the disease may aggravate cardiomyopathy and therefore it is essential that preclinical and clinical focus include improving heart function. This review consolidates what is known regarding molecular pathology of the DMD heart, specifically focusing on intracellular Ca(2+), nNOS and mitochondrial dysregulation. It briefly discusses the current treatment options and then elaborates on the preclinical therapeutic approaches currently under development to restore dystrophin thereby improving pathology, with a focus on the heart.
has issue date	2015-05-15(xsd:dateTime)
bibo:doi	10.3390/molecules20058823
bibo:pmid	25988613
has license	cc-by
sha1sum (hex)	59d3750e2fc06cf47e64fbe18dd09649750e05cf
schema:url	https://doi.org/10.3390/molecules20058823
resource representing a document's title	Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
has PubMed Central identifier	PMC6272314
has PubMed identifier	25988613
schema:publication	Molecules
resource representing a document's body	covid:59d3750e2fc06cf47e64fbe18dd09649750e05cf#body_text
is schema:about of	named entity 'MOLECULAR PATHOLOGY' named entity 'EXON SKIPPING' named entity 'LOCALIZATION' named entity 'CONTRIBUTING' named entity 'HEART' named entity 'UTROPHIN' named entity 'ABSENCE OF' named entity 'SECOND' named entity 'DEVELOPMENT' named entity 'CAUSES OF DEATH' named entity 'PATHOLOGY' named entity 'SKELETAL MUSCLE DEGENERATION' named entity 'PRECLINICAL' named entity 'INTRACELLULAR' named entity 'MUSCLE DISORDER' named entity 'UP-REGULATION' named entity 'NEED FOR' named entity 'THEIR' named entity 'CARDIOMYOCYTES' named entity 'CURRENTLY' named entity 'MUTATIONS' named entity 'THERAPIES' named entity 'PROTEIN ' named entity 'DECADE' named entity 'INTRACELLULAR CALCIUM' named entity 'GENE THERAPY' named entity 'NEURONAL NITRIC OXIDE SYNTHASE' named entity 'LEADS' named entity 'CAUSED BY' named entity 'NNOS' named entity 'DMD' named entity 'DISEASE' named entity 'DUCHENNE MUSCULAR DYSTROPHY' named entity 'APPROACHES' named entity 'CURRENT' named entity 'RESULTING IN' named entity '2C CELL' named entity 'FOCUSED' named entity 'MAIN' named entity 'AGGRAVATE' named entity 'VIRAL GENE' named entity 'INCLUDE' named entity 'INFLAMMATION' named entity 'INCLUDING' named entity 'GENETIC' named entity 'NECROSIS' named entity 'STRETCH' named entity 'SYMPTOMS' named entity 'SENSITIVE TO' named entity 'DAMAGE' named entity 'THERAPEUTIC' named entity 'DMD GENE' named entity 'TREATMENT OPTIONS' named entity 'DYSTROPHIN' named entity 'TARGETING' named entity 'KNOWN' named entity 'CURRENT' named entity 'MOLECULES' named entity 'CARDIOMYOPATHY IN DUCHENNE MUSCULAR DYSTROPHY' named entity 'CLINICAL TRIALS' named entity 'WHAT' named entity 'TREAT' named entity 'FOCUSING' named entity 'THESE' named entity 'CURRENT TREATMENT' named entity 'UNDERSTANDING' named entity 'SKELETAL MUSCLE' named entity 'MOLECULAR PATHOLOGY' named entity 'MUSCLE FUNCTION' named entity 'CONCENTRATION' named entity 'HAVE' named entity 'CLINICAL' named entity 'INDUCED' named entity 'DO NOT' named entity 'CORRECTION' named entity 'ONE OF' named entity 'CARDIOMYOPATHY' named entity 'MITOCHONDRIAL' named entity 'TREATMENT'

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