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SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane.

David J BernardFaith PangilinanCaitlin MendinaTara DesporteStephen M WincovitchDarren J WalshRichard K PorterAnne M MolloyBarry ShaneLawrence C Brody
Published in: Molecular genetics and metabolism (2024)
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.
Keyphrases
  • genome wide association study
  • oxidative stress
  • single cell
  • high resolution
  • mesenchymal stem cells
  • pregnant women
  • metabolic syndrome
  • skeletal muscle
  • label free