Dystrophin abnormalities in polymyositis and dermatomyositis.
The expression of dystrophin in muscle biopsies from nine cases of polymyositis, ten cases of juvenile dermatomyositis and three adults with dermatomyositis was studied by Western blot analysis and immunocytochemistry. Five antibodies corresponding to different N- and C-terminal regions of the dystrophin gene were used. Sixteen of the 22 cases (73%) showed an abnormality in the expression of dystrophin on Western blot analysis, either with a reduced molecular weight protein or a reduced amount. Immunostaining was abnormal in 11 out of 19 cases (58%) and showed varying degrees of discontinuity or loss of sarcolemmal staining. Immunolabelling of these areas with antibodies to beta-spectrin was normal implying that the changes were not caused by a loss of the sarcolemma. These results show that secondary changes in the expression of dystrophin can occur in the absence of an abnormality in the corresponding gene and that dystrophin cannot be used in isolation as a diagnostic marker for muscular dystrophy.
Sewry
C A
CA
Jerry Lewis Muscle Research Centre, Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, London, U.K.
Clerk
A
A
Heckmatt
J Z
JZ
Vyse
T
T
Dubowitz
V
V
Strong
P N
PN
D000293:Adolescent; D000328:Adult; D000368:Aged; D001707:Biopsy, Needle; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology*
D016189:Dystrophin