| First Author | Lancioni A | Year | 2011 |
| Journal | Hum Mol Genet | Volume | 20 |
| Issue | 23 | Pages | 4644-54 |
| PubMed ID | 21890494 | Mgi Jnum | J:177563 |
| Mgi Id | MGI:5295499 | Doi | 10.1093/hmg/ddr398 |
| Citation | Lancioni A, et al. (2011) Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Hum Mol Genet 20(23):4644-54 |
| abstractText | Cardiomyopathy is a puzzling complication in addition to skeletal muscle pathology for patients with mutations in beta-, gamma- or delta-sarcoglycan (SG) genes. Patients with mutations in alpha-SG rarely have associated cardiomyopathy, or their cardiac pathology is very mild. We hypothesize that a fifth SG, epsilon-SG, may compensate for alpha-SG deficiency in the heart. To investigate the function of epsilon-SG in striated muscle, we generated an Sgce-null mouse and a Sgca-;Sgce-null mouse, which lacks both alpha- and epsilon-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 epsilon-SG is important in preventing cardiomyopathy in alpha-SG deficiency. |
