{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lancioni A"],"funding":["Telethon","Howard Hughes Medical Institute","NCRR NIH HHS","NHLBI NIH HHS","NINDS NIH HHS","NIAMS NIH HHS"],"pagination":["4644-54"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3209833"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["20(23)"],"pubmed_abstract":["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. 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 ε-SG is important in preventing cardiomyopathy in α-SG deficiency."],"journal":["Human molecular genetics"],"pubmed_title":["Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex."],"pmcid":["PMC3209833"],"funding_grant_id":["F32AR48742","R01AR051199-S","T32HL07121","UL1RR0024979","TGM11Z06","U54NS053672-S","1U54NS053672","R01AR051199"],"pubmed_authors":["Cacciottolo M","Nigro G","Campbell KP","Rotundo IL","D'Orsi L","Aurino S","Acampora D","Kobayashi YM","Piluso G","Nigro V","Lancioni A"],"additional_accession":[]},"is_claimable":false,"name":"Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.","description":"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. 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 ε-SG is important in preventing cardiomyopathy in α-SG deficiency.","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Dec","modification":"2025-07-02T03:04:55.709Z","creation":"2025-07-02T03:04:55.709Z"},"accession":"S-EPMC3209833","cross_references":{"pubmed":["21890494"],"doi":["10.1093/hmg/ddr398"]}}