Alpha-actinin and myosin light chains in congenital nemaline myopathy.
The muscle fibers of patients with congenital nemaline myopathy contain nemaline bodies, of which alpha-actinin is a major constituent. In some cases, deficiencies of fast myosin light chains have been reported. We performed 1-dimensional polyacrylamide sodium dodecyl sulfate gradient gel electrophoresis of muscle proteins from 13 patients with congenital nemaline myopathy and 10 controls to examine the alpha-actinin and the distribution of myosin light chains in congenital nemaline myopathy. At 95 kd (corresponding to alpha-actinin), 4 patients and all controls had 1 band, 2 patients did not have any bands, and 7 had bands that were clearly weaker than those of the controls. Because alpha-actinin is present in the nemaline bodies of congenital nemaline myopathy muscle, only the deficiency of this protein must be apparent. No apparent differences in fast myosin light-chain distribution could be documented between patients and controls; no correlation was observed between muscle fiber type and light-chain distribution. The results suggest that alpha-actinin is abnormal in congenital nemaline myopathy.
Wallgren-Pettersson
C
C
Children's Hospital, University of Helsinki, Finland.
Arjomaa
P
P
Holmberg
C
C
D000185:Actinin / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D008297:Male; D008970:Molecular Weight; D009124:Muscle Proteins / Q000032:analysis*; D009135:Muscular Diseases / Q000151:congenital / Q000378:metabolism*; D009218:Myosins / Q000172:deficiency*; D012016:Reference Values
D009124:Muscle Proteins; D000185:Actinin; D009218:Myosins