title: Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.
abstract: The dystrophin-glycoprotein complex spans the sarcolemma to provide a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in skeletal muscle. In Duchenne muscular dystrophy (DMD), the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins in the sarcolemma, thus causing the disruption of the dystrophin-glycoprotein complex and the loss of the linkage to the extracellular matrix. The resulting sarcolemmal instability is presumed to render muscle fibers susceptible to necrosis. In the present study, we investigated the status of the dystrophin-associated proteins in the skeletal muscle from patients with Becker muscular dystrophy (BMD), a milder allelic form of DMD. BMD patients having in-frame deletions in the rod domain of dystrophin showed a mild to moderate reduction in all of the dystrophin-associated proteins in the sarcolemma, but this reduction was not as severe as that in DMD patients. The reduction of the immunostaining for the dystrophin-associated proteins showed a good correlation with that for dystrophin in both intensity and distribution. Our results indicate that (1) the abnormality of the sarcolemmal glycoprotein complex, which is similar to but milder than that in DMD patients, also exists in these BMD patients and (2) the rod domain of dystrophin is not crucial for the interaction with the dystrophin-associated proteins.
authors.affiliation: Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242.
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: H
authors.initials: H
authors.lastname: Collin
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: D
authors.initials: D
authors.lastname: Récan
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal; D002648:Child; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics*; D005109:Extracellular Matrix / Q000737:chemistry; D006023:Glycoproteins / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000172:deficiency* / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D016366:Open Reading Frames; D012508:Sarcolemma / Q000737:chemistry
chemical_list: D000911:Antibodies, Monoclonal; D016189:Dystrophin; D006023:Glycoproteins; D009124:Muscle Proteins