title: 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 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.
authors: Telethon Institute of Genetics and Medicine, Via Pietro Castellino 111, Napoli 80131, Italy.
authors: Alessio
authors: A
authors: Lancioni
authors: Ida Luisa
authors: IL
authors: Rotundo
authors: Yvonne Monique
authors: YM
authors: Kobayashi
authors: Luca
authors: L
authors: D'Orsi
authors: Stefania
authors: S
authors: Aurino
authors: Gerardo
authors: G
authors: Nigro
authors: Giulio
authors: G
authors: Piluso
authors: Dario
authors: D
authors: Acampora
authors: Mafalda
authors: M
authors: Cacciottolo
authors: Kevin P
authors: KP
authors: Campbell
authors: Vincenzo
authors: V
authors: Nigro
mesh_terms: D000818:Animals; D015153:Blotting, Western; D016189:Dystrophin / Q000378:metabolism*; D005455:Fluorescent Antibody Technique; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D023421:Models, Animal; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D010805:Physical Conditioning, Animal; D049031:Sarcoglycans / Q000172:deficiency* / Q000378:metabolism
chemical_list: D016189:Dystrophin; D049031:Sarcoglycans