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Updated: Aug 24, 2025
06:22
Optical Sectioning and Visualization of the Intervertebral Disc from Embryonic Development to Degeneration
Published on: July 8, 2021
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Integrative Bioinformatics Analysis Revealed Mitochondrial Dysfunction-Related Genes Underlying Intervertebral Disc
Zhengya Zhu1, Zhongyuan He1,2, Tao Tang1,2
1Innovation Platform of Regeneration and Repair of Spinal Cord and Nerve Injury, Department of Orthopaedic Surgery, The Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen 518107, China.
Oxidative Medicine and Cellular Longevity
|October 21, 2022
Summary
Mitochondrial dysfunction is key in intervertebral disc degeneration (IDD). This study identified four genes (SOX9, FLVCR1, NR5A1, UCHL1) linked to IDD pathogenesis, offering potential diagnostic and therapeutic targets.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Mitochondrial dysfunction is a critical factor in intervertebral disc degeneration (IDD).
- Understanding the molecular mechanisms driving mitochondrial dysfunction in IDD is crucial for developing effective treatments.
- Bioinformatic approaches can identify key genes and pathways involved in complex diseases like IDD.
Purpose of the Study:
- To identify key genes and pathways contributing to mitochondrial dysfunction in intervertebral disc degeneration (IDD).
- To elucidate the pathogenesis of IDD by analyzing gene expression patterns and molecular networks.
- To validate identified genes in patient tissues for diagnostic and therapeutic relevance.
Main Methods:
- Utilized Gene Expression Omnibus datasets (GSE70362, GSE124272) to identify differentially expressed genes (DEGs) in IDD.
- Applied Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, and protein-protein interaction (PPI) networks to pinpoint critical genes.
- Verified key DEGs, including SOX9, FLVCR1, NR5A1, and UCHL1, in surgically obtained intervertebral disc tissues using quantitative real-time PCR (qPCR) and western blot.
Main Results:
- Identified 152 DEGs between IDD patients and healthy controls, with 67 upregulated and 85 downregulated.
- Screened four genes (SOX9, FLVCR1, NR5A1, UCHL1) associated with mitochondrial dysfunction in IDD.
- SOX9, FLVCR1, and UCHL1 were downregulated, while NR5A1 was upregulated in IDD tissues and peripheral blood; results were validated via qPCR and western blot.
Conclusions:
- Identified SOX9, FLVCR1, NR5A1, and UCHL1 as key genes involved in mitochondrial dysfunction during intervertebral disc degeneration (IDD).
- These findings provide novel insights into the pathogenesis of IDD.
- The identified genes may serve as potential biomarkers for IDD diagnosis and targets for therapeutic intervention.
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