SLC25A48 影响血浆中胆碱的水平，并定位在线粒体内膜上。

IF 3.5 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-09-01 Epub Date: 2024-06-20 DOI:10.1016/j.ymgme.2024.108518

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

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引用次数: 0

摘要

胆碱有助于甲基、神经递质和细胞膜的生物生成。我们对 2228 名大学生进行的循环胆碱全基因组关联研究（GWAS）发现，SLC25A48（rs6596270）的等位基因会影响男性的胆碱浓度（p = 9.6 × 10-8），但不会影响女性的胆碱浓度。此前，SLC25A48 的亚细胞位置和功能尚不清楚。利用超分辨率免疫荧光显微镜，我们将 SLC25A48 定位于线粒体内膜。我们的研究结果表明，SLC25A48 可通过线粒体内膜转运胆碱。

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

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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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.