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

Authors:

David J. Bernard, Faith Pangilinan, Caitlin Mendina, Tara Desporte, Stephen M. Wincovitch, Darren J. Walsh, Richard K. Porter, Anne M. Molloy, Barry Shane, Lawrence C. Brody

Keywords:

Choline; SLC25A48; Mitochondria; Inner mitochondrial membrane transport; Betaine; One carbon metabolism

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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