Integrative Bioinformatics Analysis Revealed Mitochondrial Dysfunction-Related Genes Underlying Intervertebral Disc Degeneration

Oxidative Medicine and Cellular Longevity, 2022 · DOI: https://doi.org/10.1155/2022/1372483 · Published: October 11, 2022

Genetics Spinal Disorders Bioinformatics

Simple Explanation

This study investigates the role of mitochondrial dysfunction in intervertebral disc degeneration (IDD), a major cause of low back pain. By analyzing gene expression data from IDD patients and healthy controls, the researchers aimed to identify key genes and pathways involved in mitochondrial dysfunction during IDD. The researchers used bioinformatics tools to screen for genes that are differentially expressed in IDD patients compared to healthy individuals. They focused on genes related to mitochondrial function and identified four key genes (SOX9, FLVCR1, NR5A1, and UCHL1) that were significantly altered in IDD. The study also examined the immune cell composition in IDD patients and found an increased presence of activated mast cells. This suggests that immune responses may also play a role in the development of IDD. The findings may provide new insights for the diagnosis and treatment of IDD.

Study Duration

Not specified

Participants

40 IDD patients and 24 healthy controls

Evidence Level

Level 5: Bioinformatics Analysis, in vitro experiments

Key Findings

1
Identified 152 differentially expressed genes (DEGs) between IDD patients and healthy controls, including 67 upregulated and 85 downregulated genes.
2
Screened out four genes related to mitochondrial dysfunction (SOX9, FLVCR1, NR5A1, and UCHL1) that were significantly altered in IDD patients.
3
Observed increased concentrations of activated mast cells in IDD patients, suggesting a potential role for immune infiltration in IDD pathogenesis.

Research Summary

This study used bioinformatics analysis to identify genes associated with mitochondrial dysfunction in intervertebral disc degeneration (IDD). Datasets GSE70362 and GSE124272 were downloaded from the Gene Expression Omnibus, and differentially expressed genes (DEGs) were screened. Four genes related to mitochondrial dysfunction (SOX9, FLVCR1, NR5A1 and UCHL1) were screened out. The analysis of immune inﬁltration showed the concentrations of mast cells activated were signiﬁcantly the highest in IDD patients. The identiﬁcation of these diﬀerential genes may provide new insights for the diagnosis and treatment of IDD.

Practical Implications

Diagnostic Potential

The identified differential genes (SOX9, FLVCR1, NR5A1, and UCHL1) could potentially be used as biomarkers for the diagnosis of IDD.

Therapeutic Targets

These genes may also serve as therapeutic targets for the development of new treatments aimed at preventing or reversing disc degeneration.

Personalized Medicine

Understanding the role of mitochondrial dysfunction in IDD could lead to more personalized treatment approaches based on an individual's genetic profile and disease stage.

Study Limitations

1
Limited number of publicly available RNA-sequencing datasets for IDD.
2
Lack of clinical data, such as disease phenotype and radiological data, in public databases.
3
Need for further in vitro and in vivo experiments to investigate the exact molecular mechanisms of the candidate genes.

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