Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Therapeutic Potential of Vitamins in Charcot-Marie-Tooth Disease with the Compromised Status of the Vitamin-Dependent Processes

Version 1 : Received: 25 April 2023 / Approved: 26 April 2023 / Online: 26 April 2023 (08:33:26 CEST)

A peer-reviewed article of this Preprint also exists.

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. 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.

Abstract

Understanding molecular mechanisms of neurological disorders is required for development of personalized medicine. When the diagnosis considers not only the disease symptoms, but also their molecular basis, the treatments tailored for individual patients may be suggested. The vitamins-responsive neurological disorders are induced by deficiencies in the vitamin-dependent processes. The deficiencies may occur due to genetic impairments of proteins whose functions are involved with the vitamins. This review considers the enzymes encoded by DHTKD1, PDK3 and PDXK genes, whose mutations are observed in patients with Charcot-Marie-Tooth (CMT) disease. The enzymes bind or produce the coenzyme forms of vitamins B1 (thiamine diphosphate, ThDP) and B6 (pyridoxal-5’-phosphate, PLP). Alleviation of such disorders by administration of the lacking vitamin or its derivative calls upon a better introduction of the mechanistic knowledge to medical diagnostics and therapies. Recent data on lower levels of the vitamin B3 derivative, NAD+, in the blood of patients with CMT disease, compared to the control subjects, are also considered in view of the NAD-dependent mechanisms of pathological axonal degeneration, suggesting therapeutic potential of vitamin B3. Thus, improved diagnostics of the underlying causes of the CMT disease may allow the patients with the vitamin-responsive disease forms to benefit from the administration of the vitamins B1, B3, B6, their natural derivatives or pharmacological forms.

Keywords

vitamin B1; vitamin B6; vitamin B3; pyridoxal-5’-phosphate; thiamine diphosphate; NAD+, mutation in vitamin-binding protein; Charcot-Marie-Tooth disease; DHTKD1; PDK3; PDXK

Subject

Biology and Life Sciences, Neuroscience and Neurology

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