The mitochondrial choline transporter, SLC25A48, regulates urine and blood choline levels in humans.

Maity, Soumya; Sharma, Kumar · Kidney Int · 2025

basic_science · Level V

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Abstract

Choline is an essential nutrient for the biosynthesis of phospholipids and neurotransmitters and controls several physiological functions in mammals. It is metabolized in the organelles within cells, including mitochondria. However, its subcellular distribution and mode of mitochondrial transport remain poorly understood. Patil et al. identified SLC25A48 as a mitochondrial choline transporter, and its loss-of-function mutations were associated with elevated urine and plasma choline levels in humans.

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