Impact of mitochondrial citrate carrier expression on metabolism in the developing heart

Slc25a1 encodes for the mitochondrial citrate carrier, a mitochondrial inner membrane transporter that mediates mitochondrial citrate export. Systemic deletion of Slc25a1 (both homozygous and heterozygous loss) leads to cardiac structural defects and mitochondrial dysfunction. Transcriptomic profiles of metabolic gene expression in the the developing mouse heart at E17.5 reveal alterations in metabolic pathways including oxdiative phosphorylation, supporting mitochondrial structural and functional defects observed with loss of this transporter. In this study embryonic mouse hearts were collected from timed matings of Slc25a1 heterozgyous knockout mice at E17.5. Hearts were collected from wild type (WT), Slc25a1 heterozygous knockout (HET) and Slc25a1 homozygous knockout (KO) embryos. Total RNA was extracted from each heart and analysed using the NanoString nCounter platform to examine the expression of metabolic genes. 3 groups: WT, HET and KO. 4 samples per group.

Slc25a1编码线粒体柠檬酸载体，这是一种定位于线粒体内膜的转运蛋白，负责介导线粒体柠檬酸的输出。全身性敲除Slc25a1（包括纯合子与杂合子缺失）会引发心脏结构异常与线粒体功能障碍。对胚胎发育至E17.5阶段小鼠心脏的代谢基因表达转录组分析显示，包括氧化磷酸化在内的多条代谢通路发生异常，这佐证了该转运蛋白缺失所导致的线粒体结构与功能缺陷。本研究通过对Slc25a1杂合敲除小鼠进行定时交配，在胚胎发育至E17.5时收集其胚胎心脏。收集的样本分为野生型（WT）、Slc25a1杂合敲除型（HET）以及Slc25a1纯合敲除型（KO）三类胚胎心脏。提取每颗心脏的总RNA，采用NanoString nCounter平台进行检测，以分析代谢基因的表达水平。本数据集共设3个分组：WT组、HET组与KO组，每组包含4个样本。