The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
Abstract
:1. Mitochondria
2. Mitochondrial Disease
3. m.3243A>G Mutation
4. Molecular and Functional Consequences of the m.3243A>G Mutation
5. Cell Models of m.3243A>G
5.1. Fibroblast Studies
5.2. Stem Cell Based Models
5.2.1. Pluripotent Stem Cells
5.2.2. Neural Cells
5.2.3. Cardiac Cells
5.2.4. Other iPSC- Derived Cell Types
5.3. Cybrid Models
5.3.1. 143B Human Osteosarcoma Cells
5.3.2. SH-SY5Y Human Neuroblastoma Cybrids
5.3.3. Other Cybrid Models of m.3243A>G
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Cell Type/Phenotype | Fibroblasts | iPSCs | Neurons | Cardiac Cells |
---|---|---|---|---|
Metabolism | Decreased respiration. Increased glycolytic activity [40]. | Decreased respiration in some patients [33,37,44]. | Decreased respiration in some studies. Increased glycolytic activity [45]. | Decreased respiration. Increased glycolytic activity [38,46]. |
Mitochondrial effects | Decreased membrane potential [40,41]. CI and CIV deficiency [35,40,41,42,43]. | Membrane potential not affected. CI deficiency [33,44]. | CI deficiency [34] | Membrane potential not affected. CI deficiency [38]. |
Cellular energy | Decreased ATP [40,41]. | Not affected [37]. | n.d | Decreased ATP [38]. |
Functional defects | Reduced growth rate [40]. | n.d | Increased spontaneous activity, decreased synchronous activity, decreased excitatory synapses, and dendritic complexity [45]. | Changes in calcium signaling [38]. |
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Ryytty, S.; Hämäläinen, R.H. The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models. Int. J. Mol. Sci. 2023, 24, 13478. https://doi.org/10.3390/ijms241713478
Ryytty S, Hämäläinen RH. The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models. International Journal of Molecular Sciences. 2023; 24(17):13478. https://doi.org/10.3390/ijms241713478
Chicago/Turabian StyleRyytty, Sanna, and Riikka H. Hämäläinen. 2023. "The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models" International Journal of Molecular Sciences 24, no. 17: 13478. https://doi.org/10.3390/ijms241713478