Syncoilin upregulation in muscle of patients with neuromuscular disease.
Syncoilin may have a role in linking the desmin-associated intermediate filament network of the muscle fiber with the dystrophin-associated protein complex (DAPC). We have evaluated syncoilin in a range of neuromuscular disorders including Duchenne and Becker muscular dystrophy, central core disease, congenital muscular dystrophies, and neurogenic disorders. Our results show that syncoilin immunolabeling is not only altered in muscle fibers with alterations in the DAPC but also in response to a variety of genetic defects, including those associated with proteins of the extracellular matrix and the intracellular Ca2+-release channel (ryanodine receptor). The pattern of syncoilin immunolabeling in these diseases appeared to reflect a rearrangement of the intermediate filament-associated cytoskeleton that characterizes both muscle fiber development and conditions in which the cytoskeletal organization of the muscle fiber is significantly affected. These observations raise the possibility that mutations in the gene encoding for syncoilin may underlie some forms of muscle disease.
Brown
Susan C
SC
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK. s.brown@ic.ac.uk
Torelli
Silvia
S
Ugo
Isabella
I
De Biasia
Floriana
F
Howman
Emily V
EV
Poon
Ellen
E
Britton
Joanna
J
Davies
Kay E
KE
Muntoni
Francesco
F
D000818:Animals; D015153:Blotting, Western / Q000379:methods; D002352:Carrier Proteins / Q000378:metabolism*; D003893:Desmin / Q000378:metabolism; D049030:Dystroglycans / Q000378:metabolism; D049029:Dystrophin-Associated Proteins / Q000378:metabolism; D005333:Fetus; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008565:Membrane Proteins / Q000378:metabolism*; D051379:Mice; D018101:Mice, Inbred mdx; D018482:Muscle, Skeletal / Q000196:embryology / Q000378:metabolism* / Q000473:pathology; D009218:Myosins / Q000378:metabolism; D019006:Neural Cell Adhesion Molecules / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000145:classification / Q000378:metabolism* / Q000473:pathology; D015854:Up-Regulation
D002352:Carrier Proteins; D003893:Desmin; D049029:Dystrophin-Associated Proteins; D008565:Membrane Proteins; D019006:Neural Cell Adhesion Molecules; C098885:dystrobrevin; C502400:syncollin protein, mouse; D049030:Dystroglycans; D009218:Myosins