The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes
Abstract
:Simple Summary
Abstract
1. Introduction
2. General Information on Charcot–Marie–Tooth Disease and Associated Mutations
3. CMT Disease upon Mutations of Vitamin-Dependent Enzymes
3.1. Vitamin-B6-Dependent Pyridoxal Kinase
3.2. Vitamin-B1-Dependent Enzymes
Gene | Enzyme and Its Vitamin-Related Ligand | Gene Mutation | Protein Variant | Functional Significance of the Mutation | Primarily Affected Pathways | CMT Type | References |
---|---|---|---|---|---|---|---|
PDXK | Pyridoxal kinase, producer of the coenzyme form of vitamin B6 (PLP) | c.682G>A c.659G>A c.225T>A | Ala228Thr Arg220Gln Asn75Lys | Perturbed ATP binding, decreased enzyme activity, and low PLP levels are shown. Perturbed ATP binding, decreased enzyme activity, and low PLP levels are shown. Dimer destabilization and increased enzyme degradation are predicted. Very low levels of the enzyme activity and PLP are shown. | Transamination and decarboxylation of amino acids (decreased) | CMT6C (HMSN6C) CMT6C (HMSN6C) CMT6C (HMSN6C), early onset | [3,18] |
PDK3 | Kinase of pyruvate dehydrogenase (isoform 3), inhibited by the coenzyme form of vitamin B1 (ThDP) | c.G473>A | Arg158His | A 5-fold increase in the enzyme activity and a 6-fold stronger binding to PDC are shown. In the C.elegans model, perturbed synaptic transmission and decreased ATP production are shown. | Mitochondrial oxidation of the glucose-generated pyruvate (decreased) | CMTX6 | [13,27,28] |
DHTKD1 | 2-Oxoadipate dehydrogenase, requires the coenzyme form of vitamin B1 (ThDP) for its function | c.1455T>G | No protein from the mutated DNA | Preterm transcription termination at Tyr485 causes a 2-fold decrease in the enzyme mRNA. In HEK293 cells, rapid degradation of the truncated mRNA is shown. | Perturbed degradation of tryptophan and lysine | CMT2Q | [29] |
3.2.1. Isoenzyme 3 of Kinase of the ThDP-Dependent Pyruvate Dehydrogenase
3.2.2. Molecular Mechanisms of CMT Disease Caused by Mutations in the DHTKD1-Encoded ThDP-Dependent 2-Oxoadipate Dehydrogenase
3.3. The Shared Genetic Origin of the Vitamin-Related Forms of CMT and Other Neurological Disorders
4. CMT Disease, Aging and the Vitamin B3 Derivative NAD+
5. The Tissue-Specific Impact of Gene Mutations Perturbing Vitamin-Dependent Processes
6. Therapeutic Doses and Pharmacological Forms of Vitamins B1, B3, and B6
7. Conclusions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Bunik, V. The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes. Biology 2023, 12, 897. https://doi.org/10.3390/biology12070897
Bunik V. The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes. Biology. 2023; 12(7):897. https://doi.org/10.3390/biology12070897
Chicago/Turabian StyleBunik, Victoria. 2023. "The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes" Biology 12, no. 7: 897. https://doi.org/10.3390/biology12070897