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基因编码线粒体柠檬酸转运蛋白（mitochondrial citrate carrier），是一种定位于线粒体内膜的转运体，可介导线粒体柠檬酸的外运过程。全身性敲除Slc25a1（涵盖纯合子与杂合子缺失两种类型）会引发心脏结构异常与线粒体功能障碍。对E17.5时期发育中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显著改变，这与该转运体缺失后观测到的线粒体结构与功能缺陷相符。本研究通过Slc25a1杂合敲除小鼠的定时交配，在E17.5时期收集胚胎小鼠心脏。收集的样本来自野生型（WT）、Slc25a1杂合敲除（HET）以及Slc25a1纯合敲除（KO）的胚胎心脏。研究人员提取每颗心脏的总RNA，采用NanoString nCounter平台（NanoString nCounter）检测代谢基因的表达水平。本实验共分为3组：WT组、HET组与KO组，每组包含4个样本。