Reciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects.
We examined muscle biopsies from patients with Duchenne muscular dystrophy (DMD: 39 patients) and Becker muscular dystrophy (BMD: 11 patients), female DMD-carriers (4 patients), and control subjects (26 persons) for the expression of dystrophin and utrophin. Control subjects showed all fibers to be dystrophin-positive, while utrophin staining was negative or weak. On the other hand, muscles from DMD patients showed the inverse staining patterns: dystrophin was negative and utrophin staining strong. Thus, there was a reciprocal pattern of expression between dystrophin and utrophin. This reciprocal relationship was confirmed to some extent at the single-fiber level in female carriers of DMD showing a mosaic immunostaining of dystrophin. We consider that utrophin may have a function similar to that of dystrophin, and compensate to some extent for dystrophin deficiency in DMD.
Mizuno
Y
Y
National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Nonaka
I
I
Hirai
S
S
Ozawa
E
E
D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000096:biosynthesis* / Q000235:genetics; D016189:Dystrophin / Q000096:biosynthesis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D012508:Sarcolemma / Q000276:immunology / Q000378:metabolism; D049411:Utrophin
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin