Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies.
Immunostaining of biopsied skeletal muscle of 4 Duchenne (DMD), 12 Becker muscular dystrophy (BMD) and 3 DMD carriers' was performed using monoclonal antibodies against dystrophin and utrophin. In DMD, dystrophin-negative staining was observed except for revertant fibers which showed different stain patterns for each antibody. In 7 BMDs, there was faint/patchy stain in cases of deletion between exons 45-52, while in one case there was deletion between exons 12-17 and no stain was noted relevant to the deletion site. Moreover, in 2 cases of undetectable deletion, antibodies which recognize a terminal portion of the C-terminal domain revealed the absent stain. In DMD, the utrophin-positive fibers corresponded to dystrophin-negative fibers. In BMD, this relationship did not necessarily occur in each fiber. In DMD carriers, a cluster of dystrophin-negative fibers which was positive for utrophin were prominent. In dystrophinopathy, the immunostaining of dystrophin and utrophin is useful, in combination with dystrophin gene analysis to make a definite diagnosis.
Sahashi
K
K
Fourth Department of Medicine, Aichi Medical University.
Ibi
T
T
Suoh
H
H
Nakao
N
N
Tashiro
M
M
Marui
K
K
Arahata
K
K
Sugita
H
H
D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal; D002648:Child; D003598:Cytoskeletal Proteins / Q000276:immunology / Q000378:metabolism*; D016189:Dystrophin / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D008970:Molecular Weight; D018482:Muscle, Skeletal / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D017384:Sequence Deletion; D049411:Utrophin
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin