Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients.
Nerve-muscle co-cultures from five Duchenne muscular dystrophy (DMD) patients and one Becker (BMD) patient, were studied by immunocytochemistry with antibodies against different portions of dystrophin. Four DMD patients had a deletion in the dystrophin gene. Some dystrophin-positive myotubes were detected in a few samples of all DMD cases. PCR amplification of exon 8 of the dystrophin gene ruled out a contamination from rat spinal cord during innervation. Our results in three DMD cases, may be explained by a clonal selection of dystrophin-positive fibers observed in muscle biopsies, while in the other two cases, a "frame-restoring" mutation might account for the presence of dystrophin-positive myotubes. The possible expression of "dystrophin-related protein" or dystrophin immature isoform was considered. In the BMD case an abnormal truncated dystrophin was found in innervated muscle cultures, as well as in muscle biopsy.
Fanin
M
M
Department of Biology, University of Padova, Italy.
Hoffman
E P
EP
Saad
F A
FA
Martinuzzi
A
A
Danieli
G A
GA
Angelini
C
C
D000293:Adolescent; D000328:Adult; D000818:Animals; D001706:Biopsy; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000032:analysis*; D006801:Humans; D007223:Infant; D009136:Muscular Dystrophies / Q000378:metabolism* / Q000473:pathology; D009469:Neuromuscular Junction / Q000737:chemistry*; D051381:Rats; D012016:Reference Values
D016189:Dystrophin