Department of Molecular Biology, Semmelweis University, 1085, Budapest, Hungary.
Sci Rep. 2024 Jan 2;14(1):177. doi: 10.1038/s41598-023-50700-5.
Overnutrition and genetic predisposition are major risk factors for various metabolic disorders. Stearoyl-CoA desaturase-1 (SCD1) plays a key role in these conditions by synthesizing unsaturated fatty acids (FAs), thereby promoting fat storage and alleviating lipotoxicity. Expression of SCD1 is influenced by various saturated and cis-unsaturated FAs, but the possible role of dietary trans FAs (TFAs) and SCD1 promoter polymorphisms in its regulations has not been addressed. Therefore, we aimed to investigate the impact of the two main TFAs, vaccenate and elaidate, and four common promoter polymorphisms (rs1054411, rs670213, rs2275657, rs2275656) on SCD1 expression in HEK293T and HepG2 cell cultures using luciferase reporter assay, qPCR and immunoblotting. We found that SCD1 protein and mRNA levels as well as SCD1 promoter activity are markedly elevated by elaidate, but not altered by vaccenate. The promoter polymorphisms did not affect the basal transcriptional activity of SCD1. However, the minor allele of rs1054411 increased SCD1 expression in the presence of various FAs. Moreover, this variant was predicted in silico and verified in vitro to reduce the binding of ETS1 transcription factor to SCD1 promoter. Although we could not confirm an association with type 2 diabetes mellitus, the FA-dependent and ETS1-mediated effect of rs1054411 polymorphism deserves further investigation as it may modulate the development of lipid metabolism-related conditions.
营养过剩和遗传易感性是各种代谢紊乱的主要危险因素。硬脂酰辅酶 A 去饱和酶-1(SCD1)通过合成不饱和脂肪酸(FAs)在这些情况下发挥关键作用,从而促进脂肪储存和减轻脂肪毒性。SCD1 的表达受各种饱和和顺式不饱和 FAs 的影响,但饮食中转脂肪酸(TFAs)和 SCD1 启动子多态性在其调节中的可能作用尚未得到解决。因此,我们旨在研究两种主要的 TFAs,即 vaccenate 和 elaidate,以及四个常见的启动子多态性(rs1054411、rs670213、rs2275657、rs2275656)对 HEK293T 和 HepG2 细胞培养中 SCD1 表达的影响,使用荧光素酶报告基因检测、qPCR 和免疫印迹法。我们发现,elaidate 显著增加了 SCD1 蛋白和 mRNA 水平以及 SCD1 启动子活性,但 vaccenate 没有改变。启动子多态性不影响 SCD1 的基础转录活性。然而,rs1054411 的次要等位基因在各种 FAs 的存在下增加了 SCD1 的表达。此外,该变体在计算机上进行了预测,并在体外进行了验证,以减少 ETS1 转录因子与 SCD1 启动子的结合。虽然我们不能确认与 2 型糖尿病有关,但 rs1054411 多态性与 FA 依赖性和 ETS1 介导的效应值得进一步研究,因为它可能调节与脂质代谢相关的疾病的发展。