Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes
Abstract Microtia is a congenital malformation characterized by underdevelopment of the external ear. While chondrocyte dysfunction has been implicated in microtia, the specific cellular abnormalities remain poorly understood. This study aimed to investigate mitochondrial dysfunction in microtia cho...
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Nature Portfolio
2025-01-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-025-85169-x |
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| author | Xinyu Li Datao Li Ruhong Zhang |
| author_facet | Xinyu Li Datao Li Ruhong Zhang |
| author_sort | Xinyu Li |
| collection | DOAJ |
| description | Abstract Microtia is a congenital malformation characterized by underdevelopment of the external ear. While chondrocyte dysfunction has been implicated in microtia, the specific cellular abnormalities remain poorly understood. This study aimed to investigate mitochondrial dysfunction in microtia chondrocytes using single-cell RNA sequencing. Cartilage samples were obtained from patients with unilateral, non-syndromic microtia and healthy controls. Single-cell RNA sequencing was performed using the 10 × Genomics platform. Bioinformatic analyses including cell type identification, trajectory analysis, and gene co-expression network analysis were conducted. Mitochondrial function was assessed through ROS levels, membrane potential, and transmission electron microscopy. Chondrocytes from microtia samples showed lower mitochondrial function scores compared to normal samples. Trajectory analysis revealed more disorganized differentiation patterns in microtia chondrocytes. Mitochondrial dysfunction in microtia chondrocytes was confirmed by increased ROS production, decreased membrane potential, and altered mitochondrial structure. Gene co-expression network analysis identified hub genes associated with mitochondrial function, including SDHA, SIRT1, and PGC1A, which showed reduced expression in microtia chondrocytes. This study provides evidence of mitochondrial dysfunction in microtia chondrocytes and identifies potential key genes involved in this process. These findings offer new insights into the pathogenesis of microtia and may guide future therapeutic strategies. |
| format | Article |
| id | doaj-art-e44babaf16e44b4e8a89883c027e7403 |
| institution | DOAJ |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-e44babaf16e44b4e8a89883c027e74032025-08-20T02:59:32ZengNature PortfolioScientific Reports2045-23222025-01-0115111510.1038/s41598-025-85169-xSingle-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytesXinyu Li0Datao Li1Ruhong Zhang2Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineAbstract Microtia is a congenital malformation characterized by underdevelopment of the external ear. While chondrocyte dysfunction has been implicated in microtia, the specific cellular abnormalities remain poorly understood. This study aimed to investigate mitochondrial dysfunction in microtia chondrocytes using single-cell RNA sequencing. Cartilage samples were obtained from patients with unilateral, non-syndromic microtia and healthy controls. Single-cell RNA sequencing was performed using the 10 × Genomics platform. Bioinformatic analyses including cell type identification, trajectory analysis, and gene co-expression network analysis were conducted. Mitochondrial function was assessed through ROS levels, membrane potential, and transmission electron microscopy. Chondrocytes from microtia samples showed lower mitochondrial function scores compared to normal samples. Trajectory analysis revealed more disorganized differentiation patterns in microtia chondrocytes. Mitochondrial dysfunction in microtia chondrocytes was confirmed by increased ROS production, decreased membrane potential, and altered mitochondrial structure. Gene co-expression network analysis identified hub genes associated with mitochondrial function, including SDHA, SIRT1, and PGC1A, which showed reduced expression in microtia chondrocytes. This study provides evidence of mitochondrial dysfunction in microtia chondrocytes and identifies potential key genes involved in this process. These findings offer new insights into the pathogenesis of microtia and may guide future therapeutic strategies.https://doi.org/10.1038/s41598-025-85169-xMicrotiaChondrocytesMitochondrial dysfunctionSingle-cell sequencing |
| spellingShingle | Xinyu Li Datao Li Ruhong Zhang Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes Scientific Reports Microtia Chondrocytes Mitochondrial dysfunction Single-cell sequencing |
| title | Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| title_full | Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| title_fullStr | Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| title_full_unstemmed | Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| title_short | Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| title_sort | single cell rna sequencing reveals mitochondrial dysfunction in microtia chondrocytes |
| topic | Microtia Chondrocytes Mitochondrial dysfunction Single-cell sequencing |
| url | https://doi.org/10.1038/s41598-025-85169-x |
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