The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites

Jessica O'Reilly; Faith Pangilinan; Karsten Hokamp; Per M Ueland; John T Brosnan; Margaret E Brosnan; Lawrence C Brody; Anne M Molloy

doi:10.1016/j.ymgmr.2018.05.006

The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites

Mol Genet Metab Rep. 2018 Jun 11:16:20-22. doi: 10.1016/j.ymgmr.2018.05.006. eCollection 2018 Sep.

Authors

Jessica O'Reilly¹, Faith Pangilinan², Karsten Hokamp³, Per M Ueland⁴, John T Brosnan⁵, Margaret E Brosnan⁵, Lawrence C Brody², Anne M Molloy¹

Affiliations

¹ Department of Clinical Medicine, School of Medicine, Trinity College Dublin 2, Ireland.
² Genetic and Environmental Interaction Section, National Human Genome Research Institute, Bethesda, MD 20892, United States.
³ School of Genetics and Microbiology, Trinity College, Dublin 2, Ireland.
⁴ Section of Pharmacology, Institute of Medicine, University of Bergen and Haukeland University Hospital, 5021 Bergen, Norway.
⁵ Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

Abstract

The glycine cleavage system (GCS) is a complex of four enzymes enabling glycine to serve as a source of one-carbon units to the cell. We asked whether concentrations of glycine, dimethylglycine, formate, and serine in blood are influenced by variation within GCS genes in a sample of young, healthy individuals. Fifty-two variants tagging (r² < 0.9) the four GCS genes were tested; one variant, GLDC rs2297442-G, was significantly associated (p = .0007) with decreased glycine concentrations in serum.

Keywords: Folate; Glycine; Glycine cleavage system (GCS); Neural tube defects; One-carbon metabolism.

Abstract

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