Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Melacini, Paola; Fanin, Marina; Duggan, David; Freda, Maria Pia; Berardinelli, Angela; Danieli, Gian Antonio; Barchitta, Agata; Hoffman, Eric P.; Volta, Sergio Dalla; Angelini, C.

doi:10.1002/(sici)1097-4598(199904)22:4<473::aid-mus8>3.0.co;2-5

Cited by 123 publications

(62 citation statements)

References 35 publications

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“…Using animal models and virus-gene transfer techniques, it has been demonstrated that genetic deficiencies of the SG complex can be corrected in vivo Durbeej et al 2003). Inherited cardiomyopathy can be associated with genetic defects in the DGC (Towbin 1998), and a correlation between the primary mutation of the SG gene and cardiomyopathy has been established (Melacini et al 1999). Accordingly, the genetically engineered models of b-SG and d-SG-null mice developed cardiomyopathy (Coral-Vasquez et al 1999;Durbeej et al 2000).…”

Section: Dgc and Muscular Dystrophymentioning

confidence: 99%

The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis

2006

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Muscular dystrophies are a heterogeneous group of genetic disorders. In addition to genetic information, a combination of various approaches such as the use of genetic animal models, muscle cell biology, and biochemistry has contributed to improving the understanding of the molecular basis of muscular dystrophy's etiology. Several lines of evidence confirm that the structural linkage between the muscle extracellular matrix and the cytoskeleton is crucial to prevent the progression of muscular dystrophy. The dystrophin-glycoprotein complex links the extracellular matrix to the cytoskeleton, and mutations in the component of this complex cause Duchenne-type or limb-girdle-type muscular dystrophy. Mutations in laminin or collagen VI, muscle matrix proteins, are known to cause a congenital type of muscular dystrophy. Moreover, it is not only the primary genetic defects in the structural or matrix proteins, but also the primary mutations of enzymes involved in the protein glycosylation pathway that are now recognized to disrupt the matrix-cell interaction in a certain group of muscular dystrophies. This group of diseases is caused by the secondary functional defects of dystroglycan, a transmembrane matrix receptor. This review considers recent advances in understanding the molecular pathogenesis of muscular dystrophies that can be caused by the disruption of the cell-matrix linkage.

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Section: Dgc and Muscular Dystrophymentioning

confidence: 99%

The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis

2006

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“…Genetic defects of sarcoglycans, dystroglycan, and/or dystrophin are believed to play an important role in the development of muscular diseases such as cardiomyopathy and muscular dystrophies (6,7,29,30). However, whether or not there is a substantial contribution of alterations in the DRGP complex of the heart without genetic mutation to the development of heart failure remains unclear.…”

Section: Discussionmentioning

confidence: 99%

“…Inherent mutation or depletion of sarcoglycans and/or dystrophin genes causes muscular dystrophy and dilated cardiomyopathy in humans and hamsters (6,7). Recent studies have shown that δ-sarcoglycan gene transfection mediated by adeno-associated virus improves cardiac function, sarcolemmal stability, and survival of TO-2 hamsters (8), which are an animal model mimicking human dilated cardiomyopathy.…”

Section: Introductionmentioning

confidence: 99%

Alterations in Dystrophin-Related Glycoproteins in Development of Right Ventricular Failure in Rats

et al. 2009

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Abstract. Genetic depletion of the dystrophin-related glycoprotein (DRGP) complex causes cardiomyopathy in animals and humans. The present study was undertaken to explore the possible involvement of alterations in DRGP in the development of the right ventricular failure in monocrotaline-administered rats (MCT rats). At the 6th and 8th weeks after subcutaneous administration of 60 mg/kg monocrotaline, echocardiographic examination showed that cardiac output indices were decreased and that the right ventricular Tei indices were increased, suggesting that right ventricular failure occurs, at the latest, by 6 weeks after monocrotaline-administration. The levels of α-and β-sarcoglycan and β-dystroglycan in the right ventricle of the MCT rats at the 6th and 8th weeks were markedly decreased, and these decreases were inversely related to the increase in the right ventricular Tei index of the MCT-administered animals. The content and activity of the Ca 2+-activated neutral protease m-calpain in the right ventricle of the MCT rats were increased at the 4th to 8th weeks and those of matrix metalloproteinase-2, at the 6th and 8th weeks. These results suggest that m-calpain-and/or matrix metalloproteinase-2-mediated alterations in the contents of α-sarcoglycan, β-sarcoglycan, and β-dystroglycan may be involved in the development of right ventricular failure in MCT rats.

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“…Conduction defects have been evidenced in Duchenne muscular dystrophy [41,42], Becker muscular dystrophy [43,44], myotonic dystrophy type 1 and 2 [45,46], Emery-Dreifuss muscular dystrophy [47], and limb girdle muscular dystrophy [48,49].…”

Section: Pkcs and Muscular Dystrophiesmentioning

confidence: 99%

PKC Proteins and Muscular Dystrophy

Gobbi

Galli

Carubbi

et al. 2018

JFMK

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Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal and cardiac muscles. In the development of muscular dystrophies, several transduction pathways have been studied. A possible link between muscular dystrophies and PKCs have been recently proposed. After a brief description of the possible transduction pathways that are involved in the development of these genetic diseases, we summarize recent evidence on the role of PKC proteins in muscular dystrophies, with the aim to review possible candidates in molecular therapy of these pathologies.

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Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Cited by 123 publications

References 35 publications

The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis

The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis

Alterations in Dystrophin-Related Glycoproteins in Development of Right Ventricular Failure in Rats

PKC Proteins and Muscular Dystrophy

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