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Updated: Jun 15, 2026
Immunolabelling Myofiber Degeneration in Muscle Biopsies
Published on: December 5, 2019
Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles
Yoshihiro Wakayama1, Yoko Matsuzaki, Sumimasa Yamashita
1Department of Neurology, Showa University Fujigaoka Hospital, Yokohama, Japan. wakayama@showa-university-fujigaoka.gr.jp
Abstract:
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.
Insights
Dysbindin mRNA is upregulated in Duchenne muscular dystrophy (DMD) muscles, offering new insights into muscular dystrophy pathophysiology. Syncoilin and beta-synemin mRNA levels showed no significant changes in DMD or Fukuyama congenital muscular dystrophy (FCMD) patients.
Area of Science:
- Molecular Biology
- Genetics
- Neuromuscular Disorders
Background:
- Progressive muscular dystrophies are genetic disorders affecting muscle function.
- Duchenne muscular dystrophy (DMD) involves dystrophin defects, while Fukuyama congenital muscular dystrophy (FCMD) is linked to fukutin gene abnormalities and alpha-dystroglycan glycosylation defects.
- Dystrobrevin, a component of the dystrophin glycoprotein complex, interacts with dysbindin, syncoilin, and beta-synemin.
Purpose of the Study:
- To investigate the mRNA expression levels of dysbindin, syncoilin, and beta-synemin in muscle biopsies from patients with DMD and FCMD.
- To compare these mRNA levels with those in normal muscle tissue to understand their role in disease pathophysiology.
Main Methods:
- Quantitative analysis of mRNA levels for dysbindin, syncoilin, and beta-synemin.
- Comparison of mRNA expression in biopsied muscles from DMD and FCMD patients against normal muscle controls.
Main Results:
- Significant upregulation of human dysbindin mRNA was observed in DMD muscles compared to normal muscles (p < .05).
- No statistically significant differences in mRNA ratios for syncoilin and beta-synemin were found between DMD and normal muscles, though a trend towards upregulation of syncoilin was noted (.05 < p < .1).
- No significant differences in mRNA levels of dysbindin, syncoilin, or beta-synemin were observed between FCMD and normal muscles.
Conclusions:
- The findings suggest dysbindin mRNA upregulation is associated with the pathophysiology of Duchenne muscular dystrophy.
- The study provides molecular insights into DMD and FCMD, highlighting potential differences in gene expression patterns.
- Further research is warranted to fully elucidate the roles of these proteins in various muscular dystrophies.
