Unknown

Dataset Information

0

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.

ABSTRACT: Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in ?-, ?- or ?-sarcoglycan (SG) genes. Patients with mutations in ?-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, ?-SG, may compensate for ?-SG deficiency in the heart. To investigate the function of ?-SG in striated muscle, we generated an Sgce-null mouse and a Sgca-;Sgce-null mouse, which lacks both ?- and ?-SGs. While Sgce-null mice showed a wild-type phenotype, with no signs of muscular dystrophy or heart disease, the Sgca-;Sgce-null mouse developed a progressive muscular dystrophy and a more anticipated and severe cardiomyopathy. It shows a complete loss of residual SGs and a strong reduction in both dystrophin and dystroglycan. Our data indicate that ?-SG is important in preventing cardiomyopathy in ?-SG deficiency.

SUBMITTER: Lancioni A 

PROVIDER: S-EPMC3209833 | biostudies-other | 2011 Dec

REPOSITORIES: biostudies-other

Json Xml
altmetric image

Publications

Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.

Lancioni Alessio A   Rotundo Ida Luisa IL   Kobayashi Yvonne Monique YM   D'Orsi Luca L   Aurino Stefania S   Nigro Gerardo G   Piluso Giulio G   Acampora Dario D   Cacciottolo Mafalda M   Campbell Kevin P KP   Nigro Vincenzo V  

Human molecular genetics 20110902 23

Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in β-, γ- or δ-sarcoglycan (SG) genes. Patients with mutations in α-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, ε-SG, may compensate for α-SG deficiency in the heart. To investigate the function of ε-SG in striated muscle, we generated an Sgce-null mouse and a Sgca-;Sgce-null mouse, which lacks both α- and ε-SGs. Whi  ...[more]

Similar Datasets

Unknown Alpha-dystrobrevin-1 recruits alpha-catulin to the alpha1D-adrenergic receptor/dystrophin-associated protein complex signalosome.
| S-EPMC3003112 | biostudies-literature
Unknown Subcellular localization of dystrophin isoforms in cardiomyocytes and phenotypic analysis of dystrophin-deficient mice reveal cardiac myopathy is predominantly caused by a deficiency in full-length dystrophin.
| S-EPMC4160940 | biostudies-literature
Unknown Juvenile cardiomyopathy with dystrophin deficiency.
| S-EPMC10808916 | biostudies-literature
Unknown I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs.
| S-EPMC298629 | biostudies-other
Transcriptomics Transcriptomic changes associated with DNA pol epsilon deficiency
2016-07-22 | E-GEOD-71002 | biostudies-arrayexpress
Unknown Iron deficiency accelerates intervertebral disc degeneration through affecting the stability of DNA polymerase epsilon complex.
| S-EPMC6291718 | biostudies-literature
Unknown Dystrobrevin increases dystrophin's binding to the dystrophin-glycoprotein complex and provides protection during cardiac stress.
| S-EPMC4271192 | biostudies-literature
Unknown CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.
| S-EPMC2846042 | biostudies-literature
Unknown Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation.
| S-EPMC9046450 | biostudies-literature
Unknown Frs2alpha-deficiency in cardiac progenitors disrupts a subset of FGF signals required for outflow tract morphogenesis.
| S-EPMC3262991 | biostudies-literature