代谢相关脂肪性肝病(metabolic dysfunction-associated fatty liver disease, MAFLD)是全球范围内最常见的慢性肝病, 因与代谢紊乱密切相关而引发广泛关注。MAFLD 的发病机制涉及脂质代谢异常、脂质氧化以及基因调控, 本文重点分析肝脏中脂肪酸摄取、甘油三酯从头合成、脂质氧化代谢途径,以及相关脂质代谢基因如FATP2、FATP5、CD36、PPARα、CPT1、CPT2、FGF21、SREBP1、ChREBP、ACLY、ACC、FASN、SCD、DGAT2、GPR75、RBP4、脂联素和骨钙素等的功能。通过深入解析这些基因和信号通路, 本文为MAFLD 的诊断和治疗提供了新的思路和理论基础, 强调了脂质代谢调节在MAFLD进展中的关键作用, 并指出相关基因和分子机制可提供潜在的治疗靶点。

Metabolic dysfunction-associated fatty liver disease (MAFLD) is the most prevalent chronic liver disease worldwide, garnering significant attention due to its close association with metabolic disorders. The pathogenesis of MAFLD involves lipid metabolism dysfunction, lipid oxidation, and gene dysregulation. This article focuses on analyzing metabolic pathways in the liver, including hepatic fatty acid uptake, de novo triglyceride synthesis, and lipid oxidation, as well as the functions of associated lipid metabolism genes, such as FATP2, FATP5, CD36, PPARα, CPT1, CPT2, FGF21, SREBP1, ChREBP, ACLY, ACC, FASN, SCD, DGAT2, GPR75, RBP4, adiponectin, and osteocalcin. Through in-depth analysis of these genes and signaling pathways, this article provides new insights and a theoretical basis for the diagnosis and treatment of MAFLD, highlighting the pivotal role of lipid metabolism regulation in the progression of MAFLD, and identifying relevant genes and molecules as potential therapeutic targets.