Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models
Abstract
:1. Introduction
2. Clinical Phenotype
3. SGCE and the ε-Sarcoglycan Protein
4. Pathophysiology: A Network View
4.1. Basal Ganglia
4.2. Cerebellum
4.3. Cerebral Cortex
5. Neuronal Differentiation from PSCs
5.1. Neuron Differentiation by Directly Reprogramming PSCs
5.2. Step-Wise Differentiation of Neurons
5.2.1. Differentiating Cortical GABAergic Interneurons
5.2.2. Differentiating Medium Spiny Neurons
5.2.3. Differentiating Midbrain Dopaminergic Neurons
5.2.4. Differentiating Cerebellar Neurons
6. PSC-Derived Neuronal Models of MD
7. Future Perspectives
8. Conclusions
Author Contributions
Funding
Data Availability Statement
Conflicts of Interest
References
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Strategy | Drug | Mechanism | Reference |
---|---|---|---|
Pharmacological treatment | Zonisamide | Inhibit Na+ and T-type Ca2+ channel Modulate GABAergic, glutamatergic, and dopaminergic transmission | [19] |
Carbamazepine | Voltage-dependent Na+ channel antagonist Increase dopaminergic and serotonergic transmission | [20] | |
Benzodiazepines | Enhance GABAergic transmission | [21] | |
Trihexyphenidyl | Inhibit cholinergic transmission | [22] | |
Tetrabenazine | Inhibit vesicular monoamine transporter 2 | [23] | |
Levodopa | Monoamine precursor | [24] | |
L-5-hydroxytryptophan | Serotonin precursor | [25] | |
Sodium Oxybate | Enhance GABA-B transmission | [26] | |
Botulinum toxin | Unknown | [27] |
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Li, Z.; Abram, L.; Peall, K.J. Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models. Cells 2024, 13, 1520. https://doi.org/10.3390/cells13181520
Li Z, Abram L, Peall KJ. Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models. Cells. 2024; 13(18):1520. https://doi.org/10.3390/cells13181520
Chicago/Turabian StyleLi, Zongze, Laura Abram, and Kathryn J. Peall. 2024. "Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models" Cells 13, no. 18: 1520. https://doi.org/10.3390/cells13181520