Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation

<b>Background/Objectives</b>: Lumbar disc herniation (LDH) is the most common condition associated with low back pain, and it adversely impacts individuals’ health. The interplay between energy metabolism and apoptosis is critical, as the loss of viable cells in the intervertebral disc (...

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Main Authors: Lianjun Yang, Jinxiang Li, Zhifei Cui, Lihua Huang, Tao Chen, Xiang Liu, Hai Lu
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomedicines
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Online Access:https://www.mdpi.com/2227-9059/13/7/1536
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author Lianjun Yang
Jinxiang Li
Zhifei Cui
Lihua Huang
Tao Chen
Xiang Liu
Hai Lu
author_facet Lianjun Yang
Jinxiang Li
Zhifei Cui
Lihua Huang
Tao Chen
Xiang Liu
Hai Lu
author_sort Lianjun Yang
collection DOAJ
description <b>Background/Objectives</b>: Lumbar disc herniation (LDH) is the most common condition associated with low back pain, and it adversely impacts individuals’ health. The interplay between energy metabolism and apoptosis is critical, as the loss of viable cells in the intervertebral disc (IVD) can lead to a cascade of degenerative changes. Efferocytosis is a key biological process that maintains homeostasis by removing apoptotic cells, resolving inflammation, and promoting tissue repair. Therefore, enhancing mitochondrial energy metabolism and efferocytosis function in IVD cells holds great promise as a potential therapeutic approach for LDH. <b>Methods</b>: In this study, energy metabolism and efferocytosis-related differentially expressed genes (EMERDEGs) were identified from the transcriptomic datasets of LDH. Machine learning approaches were used to identify key genes. Functional enrichment analyses were performed to elucidate the biological roles of these genes. The functions of the hub genes were validated by RT-qPCR. The CIBERSORT algorithm was used to compare immune infiltration between LDH and Control groups. Additionally, we used single-cell RNA sequencing dataset to analyze cell-specific expression of the hub genes. <b>Results</b>: By using bioinformatics methods, we identified six EMERDEGs hub genes (IL6R, TNF, MAPK13, ELANE, PLAUR, ABCA1) and verified them using RT-qPCR. Functional enrichment analysis revealed that these genes were primarily associated with inflammatory response, chemokine production, and cellular energy metabolism. Further, we identified candidate drugs as potential treatments for LDH. Additionally, in immune infiltration analysis, the abundance of activated dendritic cells, neutrophils, and gamma delta T cells varied significantly between the LDH group and Control group. The scRNA-seq analysis showed that these hub genes were mainly expressed in chondrocyte-like cells. <b>Conclusions</b>: The identified EMERDEG hub genes and pathways offer novel insights into the molecular mechanisms underlying LDH and suggest potential therapeutic targets.
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issn 2227-9059
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spelling doaj-art-8389889576fa45dfa45afd404644fd132025-08-20T04:00:54ZengMDPI AGBiomedicines2227-90592025-06-01137153610.3390/biomedicines13071536Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc HerniationLianjun Yang0Jinxiang Li1Zhifei Cui2Lihua Huang3Tao Chen4Xiang Liu5Hai Lu6Department of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, ChinaDepartment of Spine Surgery, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai 519000, China<b>Background/Objectives</b>: Lumbar disc herniation (LDH) is the most common condition associated with low back pain, and it adversely impacts individuals’ health. The interplay between energy metabolism and apoptosis is critical, as the loss of viable cells in the intervertebral disc (IVD) can lead to a cascade of degenerative changes. Efferocytosis is a key biological process that maintains homeostasis by removing apoptotic cells, resolving inflammation, and promoting tissue repair. Therefore, enhancing mitochondrial energy metabolism and efferocytosis function in IVD cells holds great promise as a potential therapeutic approach for LDH. <b>Methods</b>: In this study, energy metabolism and efferocytosis-related differentially expressed genes (EMERDEGs) were identified from the transcriptomic datasets of LDH. Machine learning approaches were used to identify key genes. Functional enrichment analyses were performed to elucidate the biological roles of these genes. The functions of the hub genes were validated by RT-qPCR. The CIBERSORT algorithm was used to compare immune infiltration between LDH and Control groups. Additionally, we used single-cell RNA sequencing dataset to analyze cell-specific expression of the hub genes. <b>Results</b>: By using bioinformatics methods, we identified six EMERDEGs hub genes (IL6R, TNF, MAPK13, ELANE, PLAUR, ABCA1) and verified them using RT-qPCR. Functional enrichment analysis revealed that these genes were primarily associated with inflammatory response, chemokine production, and cellular energy metabolism. Further, we identified candidate drugs as potential treatments for LDH. Additionally, in immune infiltration analysis, the abundance of activated dendritic cells, neutrophils, and gamma delta T cells varied significantly between the LDH group and Control group. The scRNA-seq analysis showed that these hub genes were mainly expressed in chondrocyte-like cells. <b>Conclusions</b>: The identified EMERDEG hub genes and pathways offer novel insights into the molecular mechanisms underlying LDH and suggest potential therapeutic targets.https://www.mdpi.com/2227-9059/13/7/1536lumbar disc herniationenergy metabolismefferocytosis
spellingShingle Lianjun Yang
Jinxiang Li
Zhifei Cui
Lihua Huang
Tao Chen
Xiang Liu
Hai Lu
Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
Biomedicines
lumbar disc herniation
energy metabolism
efferocytosis
title Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
title_full Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
title_fullStr Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
title_full_unstemmed Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
title_short Integrating Bulk RNA and Single-Cell Sequencing Data Reveals Genes Related to Energy Metabolism and Efferocytosis in Lumbar Disc Herniation
title_sort integrating bulk rna and single cell sequencing data reveals genes related to energy metabolism and efferocytosis in lumbar disc herniation
topic lumbar disc herniation
energy metabolism
efferocytosis
url https://www.mdpi.com/2227-9059/13/7/1536
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