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SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane.
Bernard, David J; Pangilinan, Faith; Mendina, Caitlin; Desporte, Tara; Wincovitch, Stephen M; Walsh, Darren J; Porter, Richard K; Molloy, Anne M; Shane, Barry; Brody, Lawrence C.
Affiliation
  • Bernard DJ; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA.
  • Pangilinan F; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA.
  • Mendina C; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA.
  • Desporte T; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA.
  • Wincovitch SM; NHGRI Advanced Imaging & Analysis Core Facility.
  • Walsh DJ; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA.
  • Porter RK; School of Biochemistry and Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland.
  • Molloy AM; Department of Clinical Medicine, School of Medicine, Trinity College Dublin, Dublin, Ireland.
  • Shane B; Department of Nutritional Sciences and Toxicology, University of California, Berkeley, CA, USA.
  • Brody LC; Gene and Environment Interaction Section, SBRB, NHGRI, NIH, Bethsda, Maryland, USA. Electronic address: lbrody@mail.nih.gov.
Mol Genet Metab ; 143(1-2): 108518, 2024 Jun 20.
Article in En | MEDLINE | ID: mdl-39047301
ABSTRACT
Choline contributes to the biogenesis of methyl groups, neurotransmitters, and cell membranes. Our genome-wide association study (GWAS) of circulating choline in 2228 college students found that alleles in SLC25A48 (rs6596270) influence choline concentrations in men (p = 9.6 × 10-8), but not women. Previously, the subcellular location and function of SLC25A48 were unknown. Using super-resolution immunofluorescence microscopy, we localized SLC25A48 to the inner mitochondrial membrane. Our results suggest that SLC25A48 transports choline across the inner mitochondrial membrane.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab / Mol. genet. metab / Molecular genetics and metabolism Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2024 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab / Mol. genet. metab / Molecular genetics and metabolism Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2024 Document type: Article Affiliation country: United States Country of publication: United States