Choline has important physiological functions as a precursor for essential cell components, signaling molecules, phospholipids, and the neurotransmitter acetylcholine. Choline is a water-soluble charged molecule requiring transport proteins to cross biological membranes. Although transporters continue to be identified, membrane transport of choline is incompletely understood and knowledge about choline transport into intracellular organelles such as mitochondria remains limited. Here we show that SLC25A48 imports choline into human mitochondria. Human loss-of-function mutations in show impaired choline transport into mitochondria and are associated with elevated urine and plasma choline levels. Thus, our studies may have implications for understanding and treating conditions related to choline metabolism.

中文翻译：

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膜转运蛋白 SLC25A48 能够将胆碱转运到人类线粒体中


胆碱作为重要细胞成分、信号分子、磷脂和神经递质乙酰胆碱的前体，具有重要的生理功能。胆碱是一种水溶性带电分子，需要转运蛋白穿过生物膜。尽管转运蛋白不断被识别，但胆碱的膜转运尚未完全了解，并且关于胆碱转运到线粒体等细胞内细胞器的知识仍然有限。在这里，我们展示了 SLC25A48 将胆碱导入人类线粒体。人类功能丧失突变显示胆碱转运至线粒体受损，并与尿液和血浆胆碱水平升高相关。因此，我们的研究可能对理解和治疗与胆碱代谢相关的疾病有影响。