Why the study?
The pathogenesis of MASH and the mechanism underlying fibrosis progression remain poorly understood, posing challenges for accurate diagnosis.
Can machine learning models based on RNA expression profiles of hub genes accurately diagnose MASLD, MASH, and fibrosis?
Can machine learning models based on RNA expression profiles of hub genes accurately diagnose MASLD, MASH, and fibrosis?
Machine learning models based on RNA expression profiles of hub genes show high diagnostic accuracy (AUC > 0.9) for MASLD, MASH, and fibrosis.
Lipid metabolism hub genes associate with MASLD-to-MASH/fibrosis progression; leaves open therapeutic targeting pending prospective validation.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a heterogeneous disease caused by multiple etiologies. It is characterized by excessive fat accumulation in the liver. Without intervention, MASLD can progress from steatosis to metabolic dysfunction-associated steatohepatitis (MASH), fibrosis and even to cirrhosis and hepatocellular carcinoma. However, the pathogenesis of MASH and the mechanism underlying the development of fibrosis remain poorly understood, posing challenges for accurate diagnosis of MASH and fibrosis. In this study, we analyzed tissue RNA-seq data and clinical information of healthy individuals and MASLD patients from multiple datasets, the key genes and pathways involved in the occurrence and progression of MASLD, MASH, and fibrosis were screened respectively. Our findings reveal that the development of MASLD, MASH and fibrosis is associated with lipid metabolism processes. Based on the RNA expression profiles of identified hub genes, we established three alternative diagnostic models for MASLD, MASH, and fibrosis. These models demonstrated excellent performance in the diagnosis of MASLD, MASH, and fibrosis, with AUC values exceeding 0.9, implicating its potential clinical values in disease diagnosis.
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Lu et al. (2025) studied this question.
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