Tryndyak Volodymyr P, Willett Rose A, Song Zhuolin, Dreval Kostiantyn, Hughes Hanks Jennifer M, Avigan Mark I, Wright Fred A, Beland Frederick A, Rusyn Ivan, Pogribny Igor P
Division of Biochemical Toxicology, FDA/NCTR, Jefferson, AR, USA.
Department of Statistics, Biological Sciences and Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA.
Toxicol Appl Pharmacol. 2025 Jun 15;502:117442. doi: 10.1016/j.taap.2025.117442.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a spectrum of chronic pathologic conditions strongly associated with metabolic syndrome and affects approximately 38 % of the global population. Untreated MASLD may progress to metabolic dysfunction-associated steatohepatitis (MASH), fibrosis, and cirrhosis and is currently recognized as one of the main risk factors for hepatocellular carcinoma (HCC). The molecular determinants of MASLD stratification are not clearly defined and require additional investigation. In this study, we used a dietary preclinical model of MASH-like liver injury induced by feeding male and female Collaborative Cross CC042/GeniUnc mice a high-fat and high-sucrose diet (HF/HS) for up to 60 weeks and analyzed the global hepatic transcriptomic alterations. Chronic feeding the HF/HS diet induced profound alterations in liver gene expression associated with the key toxicity pathways, including cell death, cell proliferation, inflammation, fibrosis, and hyperplasia. We identified a panel of 74 differentially expressed genes, the expression of which significantly correlated with total MASH pathology scores in the livers of both male and female mice. Using these genes, we developed a machine-learning model that accurately predicted the severity of MASH-like liver injury in several different animal models of MASH and demonstrated high accuracy for a smaller model with 37 genes. We also used this signature to analyze human gene expression data and show its translational relevance. The results of this study demonstrate that a panel of MASH-related genes can assist in the assessment of MASH-like liver injury, its monitoring, and in development of mechanism-based drugs against MASH.
代谢功能障碍相关脂肪性肝病(MASLD)是一系列与代谢综合征密切相关的慢性病理状况,影响着全球约38%的人口。未经治疗的MASLD可能进展为代谢功能障碍相关脂肪性肝炎(MASH)、纤维化和肝硬化,目前被认为是肝细胞癌(HCC)的主要危险因素之一。MASLD分层的分子决定因素尚未明确界定,需要进一步研究。在本研究中,我们使用了一种饮食临床前模型,通过给雄性和雌性协作杂交CC042/GeniUnc小鼠喂食高脂高糖饮食(HF/HS)长达60周来诱导类似MASH的肝损伤,并分析了肝脏整体转录组学变化。长期喂食HF/HS饮食导致肝脏基因表达发生深刻变化,这些变化与关键毒性途径相关,包括细胞死亡、细胞增殖、炎症、纤维化和增生。我们鉴定出一组74个差异表达基因,其表达与雄性和雌性小鼠肝脏中的总MASH病理评分显著相关。利用这些基因,我们开发了一种机器学习模型,可以准确预测几种不同MASH动物模型中类似MASH的肝损伤严重程度,并证明一个包含37个基因的较小模型具有较高的准确性。我们还使用这个特征分析人类基因表达数据,并展示了其转化相关性。本研究结果表明,一组与MASH相关的基因可以帮助评估类似MASH的肝损伤、对其进行监测,并有助于开发针对MASH的基于机制的药物。