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Updated: May 15, 2025
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
Published on: May 7, 2020
Identification of VDAC1 as a mitochondria-related target of Duchenne muscular dystrophy based on bioinformatics
Wenjuan Wu1, Xueqin Song2, Baoguang Li1
1Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, China; Department of Neurology, Hebei Children's Hospital, The Key Laboratory of Pediatric Epilepsy and Neurology of Hebei Province, Shijiazhuang 050031, China.
Background:
Mitochondrial dysfunction is a well-recognized pathological feature of Duchenne Muscular Dystrophy (DMD). The potential regulatory role of mitochondria-related genes (MRGs) in DMD remains to be further explored.
Methods:
GEO datasets and MRGs were used to analysis mitochondrial scores and evaluate patients' immunological characteristics. Weighted gene co-expression network analysis, differentially expressed genes (DEGs) and MRGs were used to identify hub genes. A specific hub gene was selected, and the effects of this gene overexpression on a horse serum (HS) treated C2C12 cell in vitro model were investigated.
Results:
Mitochondrial score was decreased in DMD group. Significant differences were observed in 12 immune cell types in normal/DMD and high/low mitochondrial score groups. 9 hub genes were identified, with 7 validated. Among them, VDAC1 was selected for further study. Overexpression of VDAC1 in HS C2C12 myoblasts promoted cell proliferation, reduced apoptosis rate and the Bax expression (with concurrent Bcl2 upregulation), diminished LDH release to reduce cytotoxicity, decreased intracellular ROS levels to alleviate oxidative stress, inhibited the expression of autophagy (LC3) and atrophy (Atrogin-1 and MuRF-1) markers, and promoted differentiation.
Conclusion:
In conclusion, VDAC1 may participate in the myoblast proliferation and myotube atrophy by influencing mitochondrial function, which may serve as a new target for DMD treatment.
