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Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
Metabolomics is more important in the diagnosis of IEM compared to other branches of clinical medicine, since a large number of small metabolites are excreted in IEM [89]. Urinary metabolomics is a useful tool for various disorders neonatal and infancy including IEM [90]. Selicharová et al. usedproteomicsand metabolomics analyses of human hepatocytes in primary cell culture. This technique helped to search the spectrum of proteins and associated metabolites which are affected by the interruption of methyl groupmetabolism. They studied the effect of hyperhomocysteinemia at two concentrations, 0.1 mM and 2.0 mM, and used the inhibitor, BHMT, Betaine Homocysteine N Methyltransferase. The higher concentration produced up-regulation of phosphatidylethanolamine carboxykinase and ornithine aminotransferase, cellular proliferation was affected, secretome composition was altered and signs of apoptosis were seen. In addition, fibrinogen gamma dimers were detected and defective maturation of apolipoprotein A1 was seen [91].
Enzymatic Amino Acid Deprivation Therapies Targeting Cancer
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Carla S. S. Teixeira, Henrique S. Fernandes, Sérgio F. Sousa, Nuno M. F. S. A. Cerqueira
Since l-MET is an essential amino acid, the l-MET deprivation could be harmful for the human body, but it was proved that long-term nutritional deprivation of l-MET does not compromise the human life because cells have several pathways to ensure the l-MET recycle. l-MET can be recovered through the re-methylation of homocysteine by the l-methionine synthase (MS) or, in the liver, by the betaine-homocysteine methyltransferase (BHMT) (Cellarier et al. 2003; Hoffman, 1984; Guo et al., 1993). Additionally, methylthioadenosine phosphorylase (MTAP) is also able to catalyse the production of l-MET from 5’-methylthioadenosine.
Emerging ergogenic aids for strength/power development
Published in Jay R Hoffman, Dietary Supplementation in Sport and Exercise, 2019
Betaine acts as a methyl donor in one-carbon metabolism (16). In the cytoplasm, betaine is required for remethylation of homocysteine to methionine, which serves as a precursor to the universal methyl donor S-adenosylmethionine (SAM) (Figure 14.2). Methyl groups are transferred to homocysteine in a reaction catalyzed by the enzyme BHMT. Betaine increases serum methionine, transmethylation rate, homocysteine remethylation and methionine oxidation. Betaine supplementation decreases plasma homocysteine concentrations (51). Reduced homocysteine and homocysteine thiolactone (i.e., a thioester of homocysteine) have been suggested to enhance insulin signalling and possibly increase muscle protein synthesis (10). SAM-dependent reactions include DNA methylation, synthesis of PC, proteins, neurotransmitters, creatine and other compounds. However, consumption of 2 g of betaine per day for ten days did not increase muscle phosphocreatine (PCr) content, nor did the addition of 2 g of betaine to creatine augment muscle PCr content (17), so betaine’s role in creatine metabolism remains to be determined.
Repair mechanism of Wuwei Fuzheng Yijing formula in di-2-ethylhexyl phthalate-induced sperm DNA fragmentation in mice
Published in Pharmaceutical Biology, 2022
Chenming Zhang, Shiqi Wang, Zulong Wang, Qi Zhang, Rubing Chen, Hao Zhang, Zhong Hua, Sicheng Ma
The six genes (Aass, Aldh1a7, GSTA3, Bhmt, Mug2 and Svs1) screened by the nine-quadrant map were considered potential targets of sperm DNA repair by WFY. Although some of them have been revealed to be related to the reproductive system, they have not been reported to be related to sperm DNA damage. Among them, Bhmt showed a significant difference after verification. Bhmt has been reported to be associated with certain fertility diseases. The Bhmt G742A SNP (single nucleotide polymorphism) is a genetic risk factor for idiopathic male infertility in the Romanian population (Popp et al. 2012). The abnormal expression of Bhmt was found after di-N-butyl phthalate (DBP) exposure in male rats, and Bhmt was closely related to global DNA methylation and follicle-statin like 3 (Fstl3) promoter methylation (Yuan et al. 2017). Fstl3 is a known regulator of spermatogenesis.
Effects of early-life zinc deficiency on learning and memory in offspring and the changes in DNA methylation patterns
Published in Nutritional Neuroscience, 2022
Yu-Gang Jiang, Yong-hui Wang, Han Zhang, Zi-Yu Wang, Yan-Qiang Liu
Emerging evidence has shown that Zn2+ is involved in pathways implicated in controlling epigenetic changes, particularly those in DNA methylation [8,9]. There is a CXXC domain that binds two Zn2+ and is necessary for catalytic activity in the N-terminal part of DNMT1 [10]. Similarly, there is a cysteine-rich region, termed as the plant homeodomain (PHD) or ATRX-DNMT3-DNMT3L (ADD) domain, that binds Zn2+ in the N-terminal part of DNMT3a [11]. In addition, Mecp2 has a similar CXXC domain as DNMT1 that binds Zn2+ and mediates downstream transcriptional changes of genes via binding to methylated DNA as well as co-repressors or transcriptional activators [12,13]. Previous studies have found that a ZD diet might cause a reduction in the function of BHMT (a Zn2+ dependent enzyme), which impairs the methionine cycle and reduces the methyl group donor, S-adenosyl methionine, levels in cells, resulting in a decrease in DNA methylation [14].
Betaine ameliorates impaired steroidogenesis and apoptosis in mice granulosa cells induced by high glucose concentration
Published in Systems Biology in Reproductive Medicine, 2020
Kosar Abbasi Samie, Mohammad Reza Tabandeh, Mahsa Afrough
Previous work of others has shown that hyperhomocysteinemia in diabetic patients can inhibit insulin signals and raise insulin resistance through activation of inflammatory cytokines, and also can induce cellular apoptosis by induction of ERS and elevation of oxidative damage (Tripathi et al. 2016; Feng and Xu 2017; Qi et al. 2017; Ansari et al. 2020). BHMT catalyzes conversion of homocysteine to methionine by addition of a methyl group from betaine (Zhao et al. 2018). This reaction along with methionine synthase (MS) is critical in animals for detoxification of homocysteine. It is therefore suggested that betaine may attenuate cellular apoptosis associated with hyperhomocysteinemia in granulosa cells under hyperglycemic condition. This hypothesis should be considered in future investigations.