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Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Betaine is the mainstay of treatment, and it is used to bypass folate in the remethylation cycle. Other treatments such as vitamin cofactors include: Folate.Cobalamin.Carnitine.Pyridoxine.Methyltetrahydrofolate.Riboflavin.
Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
A more detailed analysis showed that D2 receptors are increased and D1 receptors are unchanged in the striatum isolated after death from the brains of untreated patients. It is likely that the increase of D2 receptors is linked with the pathogenesis of this disease.140 Schizophrenia, therefore, may develop from the hyperactivity of dopaminergic transmission or genetically determined metabolic errors, leading to increased production of dopamine metabolites. Failure of the local dopamine elimination due to impaired flow or through a fault in methyl transfer reaction catalyzed by N-5-methyltetrahydrofolate-dopamine methyl transferase, may be the direct biochemical defect.519 This, however, can be an indirect consequence of a deficiency in 5,10-methyltetrahydrofolate reductase enzyme responsible for the supply of the methyl donor methyltetrahydrofolate.
The Role of Nutraceuticals in Gestational Diabetes Mellitus
Published in Priyanka Bhatt, Maryam Sadat Miraghajani, Sarvadaman Pathak, Yashwant Pathak, Nutraceuticals for Prenatal, Maternal and Offspring’s Nutritional Health, 2019
Neda Roshanravan, Hamed Mohammadi
It has been established that folate and vitamin B12 can be used in the regulation of homocysteine synthesis involved in the pathogenesis of GDM (62). It has been reported that elevated levels of homocysteine have been linked with insulin resistance (63). Some previous studies suggested that high plasma levels of folate and low plasma concentration of vitamin B12, resulting in a high plasma concentration of homocysteine, could be correlated with a higher plasma glucose level and the likelihood of GDM during pregnancy (62). A cohort study in China reported that daily folate supplementation in the first trimester of pregnancy may be associated with higher chances of GDM later in pregnancy (64). The association between vitamin B12 insufficiencies with higher GDM risk has also been shown in other studies (65, 66). An imbalance in these two B vitamins may be responsible for higher prevalence of GDM. On other hand, vitamin B12 insufficiency inhibited the conversion of 5-methyltetrahydrofolate to tetrahydrofolate. It has been proved that disruption in the production of purines and thymidine for DNA/RNA synthesis can be associated with the development of insulin resistance and impaired fasting glucose (67). However, the exact mechanisms for linking the effects of low vitamin B12 concentration and high folate level on glucose intolerance and insulin resistance are still unclear and not defined.
Folic acid enhances the cardiovascular protective effect of amlodipine in renal hypertensive rats with elevated homocysteine
Published in Clinical and Experimental Hypertension, 2023
Li Li, Xiaohui Tong, Zebin Ma, Lei Lv, Haipeng Liu, Guang Liang Chen
Folic acid and its active metabolite 5-methyltetrahydrofolate(5-MTHF) are essential nutrients in humans and play a significant role in nucleotide synthesis and methylation reactions. Folic acid can reverses endothelial dysfunction of endocardium in homocysteinemic hypertensive rats (20). Hcy-induced endothelial dysfunction in humans was improved with oral administration of FA. FA may also have beneficial effects on BP by increasing nitric oxide synthesis in endothelial cells, or by reducing plasma Hcy. Two prospective cohort studies showed that higher total folate intake was associated with a decreased risk of incident hypertension, particularly in younger women (21). On the contrary, folate deficiency can promote oxidative stress and multiple features of the metabolic syndrome that are associated with increased risk for diabetes and cardiovascular disease (22).
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Abraham J. Paredes-Fuentes, Clara Oliva, Roser Urreizti, Delia Yubero, Rafael Artuch
Folate is an essential vitamin in one-carbon metabolism and is involved in hundreds of methylation reactions involving proteins, DNA, purine biosynthesis, and other essential processes. Some MDs may present with a specific cerebral folate deficiency, although its exact prevalence remains unknown. In such a deficiency, peripheral folate levels are normal while CSF folate (5-methyltetrahydrofolate, the most abundant folate vitamer) levels are low [58]. The molecular mechanism in MDs that cause cerebral folate deficiency is thought to be related to bioenergetic failure and difficulties in conducting the active transport of folate through the choroid plexus from blood to CSF. However, it is unlikely to be the only factor that causes its depletion, as it is not a universal feature of MDs [58,59].
The methylenetetrahydrofolate reductase 1298 A>C polymorphism is associated with an increased risk of inflammatory bowel disease: evidence from a meta-analysis
Published in Expert Review of Clinical Immunology, 2021
Pingliang Yang, Li Wang, Xingming Tang, Yundan Liang
Homocysteine (Hcy) is a non-proteinogenic α-amino acid biosynthesized from the catabolism of methionine. A hypercoagulable state has been identified as a contributing factor in the pathogenesis of IBD [5,6]. High Hcy concentrations have been observed in patients with IBD [7,8], which may be caused either by nutritional deficiencies of vitamins and cofactors or genetic variants in Hcy metabolism-related enzymes, such as methylenetetrahydrofolate reductase (MTHFR) [8–10]. This rate-limiting enzyme in the methyl cycle plays an important role in the regulation of the metabolism of Hcy and folate by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Some MTHFR mutations may lead to 0–20% residual enzyme activity [11], which is related to a series of human diseases, including IBD.