Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles.
Progressive muscular dystrophies are genetic diseases with various modes of transmission. Duchenne muscular dystrophy (DMD) is caused by the defect of dystrophin, and Fukuyama congenital muscular dystrophy (FCMD) is caused by an abnormal fukutin gene leading to the glycosylation defect of alpha-dystroglycan. Dystrobrevin is one member of the dystrophin glycoprotein complex and its binding partners include dysbindin, syncoilin, and beta-synemin (desmuslin). Dysbindin is reported to be upregulated at the protein level in mdx mouse muscles, and syncoilin protein is also reported to be upregulated in biopsied muscles with neuromuscular disorders. In the present study we measured mRNA levels of dysbindin, syncoilin, and beta-synemin in biopsied muscles with DMD and FCMD. Upregulation of human dysbindin mRNA was observed in DMD muscles in comparison with normal muscles (p < .05). The differences in human syncoilin and beta-synemin mRNA ratios between DMD and normal muscles were not statistically significant, although upregulation tendency of human syncoilin mRNA was noted in DMD muscles (.05 < p < .1). Furthermore, the differences of human dysbindin, syncoilin, and beta-synemin mRNA ratios between FCMD and normal muscles were not statistically significant. These data provide insight into the pathophysiology of these muscular dystrophies.
Wakayama
Yoshihiro
Y
Department of Neurology, Showa University Fujigaoka Hospital, Yokohama, Japan. wakayama@showa-university-fujigaoka.gr.jp
Matsuzaki
Yoko
Y
Yamashita
Sumimasa
S
Inoue
Masahiko
M
Jimi
Takahiro
T
Hara
Hajime
H
Unaki
Akihiko
A
Iijima
Shoji
S
Masaki
Hisatsugu
H
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism; D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins; D005260:Female; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000378:metabolism; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000378:metabolism; D009223:Myotonic Dystrophy / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015854:Up-Regulation
D002352:Carrier Proteins; C432416:DTNBP1 protein, human; D000074765:Dysbindin; D049029:Dystrophin-Associated Proteins; D007381:Intermediate Filament Proteins; D009124:Muscle Proteins; D012333:RNA, Messenger; C503784:SYNC protein, human; C430456:desmuslin