TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis
Abstract
:1. Introduction
2. Results
2.1. Clinical Characteristics of Primary Failure of Eruption (PFE) Individuals
2.2. Identified Mutation and Pathogenic Analysis
2.3. Overexpression, Subcellular Distribution, Proliferative Activity and Migration Ability Analysis of MC3T3-E1 Cells after TMEM119 Transfection
2.4. TMEM119 Affects Osteogenic Differentiation of MC3T3E1 Cells by Regulating ATF4
2.5. Overexpression of ATF4 Rescues TMEM119 Mutation-Caused Osteo-Differentiation Dysfunction and Nuclear Translocation Regulated by TMEM119-ATF4 Interaction in MC3T3-E1 Cells
2.6. Decrease in Glycolysis Function Impacted by Reduced Expression of ATF4 Monitored by Seahorse Assay
2.7. TMEM119 Mutation Inhibits Osteogenic Differentiation of MC3T3-E1 through ATF4-Mediated Glycolysis
2.8. Expression of TMEM119 around Mouse Tooth Germ during Tooth Development
3. Discussion
4. Materials and Methods
4.1. Recruitment and Clinical Examination of Primary Failure of Eruption (PFE) Individuals
4.2. Whole-Exome Sequencing (WES) and Mutation Analysis
4.3. Conservation and Structural Analysis
4.4. Construction of Plasmids
4.5. Cell Culture and Liposome Transfection
4.6. Quantitative Real-Time Polymerase Chain Reaction (qRT-PCR)
4.7. Western Blot Analysis
4.8. In Vitro Mineralization Ability Detection
4.9. Cell Immunofluorescence
4.10. Co-Immunoprecipitation (Co-IP)
4.11. Cell Proliferation Assay
4.12. Wound-Healing Assay
4.13. Small Interfering RNA (siRNA) Construction and Transfection
4.14. Glycolytic Rate Assay and Mitochondrial Stress Test
4.15. Measurement of Glucose in Culture Medium
4.16. Measurement of Lactic Acid in Culture Medium
4.17. Mouse Treatment and Tissue Preparation
4.18. Tissue Immunohistochemistry and Immunofluorescence
4.19. Statistical Analysis
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Patient | Sex (F/M) | Clinical Feature of PFE | Mutation | |||
---|---|---|---|---|---|---|
Nucleotide | Codon | Type | Location | |||
I-2,II-2 | F | Doubtful | Unknown | Unknown | Unknown | Unknown |
II-3 | M | Doubtful | Unknown | Unknown | Unknown | Unknown |
III-1 | F | Yes | 143G > A | S48L | Missense | Extra-membrane |
IV-1 | F | Yes | 143G > A | S48L | Missense | Extra-membrane |
Control 1 | F | No | Wild-type | Normal | Normal | Extra-membrane |
Control 2 | M | No | Wild-type | Normal | Normal | Extra-membrane |
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Xu, M.; Wang, D.; Li, K.; Ma, T.; Wang, Y.; Xia, B. TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis. Int. J. Mol. Sci. 2024, 25, 2821. https://doi.org/10.3390/ijms25052821
Xu M, Wang D, Li K, Ma T, Wang Y, Xia B. TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis. International Journal of Molecular Sciences. 2024; 25(5):2821. https://doi.org/10.3390/ijms25052821
Chicago/Turabian StyleXu, Mindi, Dandan Wang, Kefan Li, Tianyu Ma, Yixiang Wang, and Bin Xia. 2024. "TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis" International Journal of Molecular Sciences 25, no. 5: 2821. https://doi.org/10.3390/ijms25052821