The glycine N-methyltransferase (GNMT) gene encodes a protein that not only acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine, but also participates in the detoxification pathway in liver cells. Previously, we reported that the expression level of GNMT was diminished in human hepatocellular carcinoma. In this study, the human GNMT gene was cloned and characterized. It contains six exons and spans about 10 kb. Instead of a TATA box, it has a transcriptional initiator located 801 bp upstream from the translation start codon. The gene was localized to chromosome 6p12 using fluorescence in situ hybridization. Northern blot analysis of 16 tissues from different human organs showed that GNMT was expressed only in liver, pancreas, and prostate.
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http://dx.doi.org/10.1006/geno.2000.6188 | DOI Listing |
Medicine (Baltimore)
December 2024
Newborn Screening Center, Jinan Maternal and Child Care Hospital, Jinan, P.R.China.
Rationale: The high clinical heterogeneity of hypermethioninemia caused by MAT1A gene defects has resulted in a paucity of studies examining the association between clinical phenotypes, biochemical characteristics, and gene mutations in this patient group. Furthermore, the indications for therapeutic interventions in patients remain unclear. The objective of this study is to provide a foundation for clinical diagnosis, genetic counseling, and follow-up management of hypermethioninemia caused by MAT1A gene defects.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Department of Biochemistry, University of Toronto, Toronto, ON M5S 1A1, Canada.
L-arginine: glycine amidinotransferase (AGAT) gained academic interest as the rate-limiting enzyme in creatine biosynthesis and its role in the regulation of creatine homeostasis. Of clinical relevance is the diagnosis of patients with AGAT deficiency but also the potential role of AGAT as therapeutic target for the treatment of another creatine deficiency syndrome, guanidinoacetate N-methyltransferase (GAMT) deficiency. Applying a stable isotope-labeled substrate method, we utilized ARG 15N (ARG-δ2) and GLY 13C15N (GLY-δ3) to determine the rate of 1,2-13C,15N guanidinoacetate (GAA-δ5) formation to assess AGAT activity in various mouse tissue samples and human-derived cells.
View Article and Find Full Text PDFJ Anim Sci
January 2024
Department of Animal Science, Texas A&M University, College Station, TX, USA 77843.
This study tested the hypothesis that dietary supplementation with glycine (Gly) enhances the synthesis and availability of creatine (Cr) in tissues of pigs with intrauterine growth restriction (IUGR). At weaning (21 d of age), IUGR pigs and litter mates with normal birth weights (NBW) were assigned randomly to 1 of the 2 groups, namely, supplementation with 1% Gly or 1.19% l-alanine (isonitrogenous control) to a corn- and soybean meal-based diet.
View Article and Find Full Text PDFBMC Pediatr
November 2024
Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.
Background And Objectives: Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations.
Methods: The clinical data, blood amino acids, plasma total homocysteine, gene variants, brain imaging, treatments and outcomes of 15 patients with methionine adenosyltransferase I/III deficiency were retrospectively analyzed.
Cancer Res
January 2025
Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Anticancer therapies can induce cellular senescence or drug-tolerant persistence, two types of proliferative arrest that differ in their stability. While senescence is highly stable, persister cells efficiently resume proliferation upon therapy termination, resulting in tumor relapse. Here, we used an ATP-competitive mTOR inhibitor to induce and characterize persistence in human cancer cells of various origins.
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