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Advances in pediatric non-alcoholic fatty liver disease: From genetics to lipidomics
Simona Riccio1, Rosa Melone1, Caterina Vitulano1
1Department of Woman, Child, General and Specialized Surgery, University of Campania Luigi Vanvitelli, Naples 80138, Italy.
Insights
Non-alcoholic fatty liver disease (NAFLD) in children is linked to obesity and cardiometabolic risk. Genetics and gut microbiota play roles, with emerging omics markers offering new diagnostic and treatment insights.
Area of Science:
- Pediatric Gastroenterology and Hepatology
- Genetics and Genomics
- Metabolomics and Systems Biology
Background:
- Non-alcoholic fatty liver disease (NAFLD) is a growing global health issue in children, associated with significant cardiometabolic risks.
- Established genetic factors like PNPLA3, TM6SF2, GCKR, MBOAT7-TMC4, and HSD17B13 variants contribute to NAFLD.
- The gut microbiota and the "multiple hits" theory are increasingly recognized in NAFLD pathogenesis.
Purpose of the Study:
- To provide a comprehensive overview of childhood NAFLD pathophysiology.
- To explore both traditional genetic factors and novel omics determinants in NAFLD development.
- To highlight the potential of omics markers for NAFLD diagnosis and treatment.
Main Methods:
- Review of existing literature on NAFLD genetics and pathophysiology.
- Analysis of the role of gut microbiota in NAFLD.
- Exploration of various omics branches (metabolomics, lipidomics, transcriptomics, epigenomics, proteomics, glycomics) in NAFLD.
Main Results:
- Genetic variants, particularly PNPLA3, are key players in NAFLD.
- Gut microbiota composition significantly influences NAFLD development.
- Omics technologies offer novel insights into NAFLD mechanisms and biomarkers.
Conclusions:
- Childhood NAFLD is multifactorial, involving genetics, environment, and gut microbiome.
- Omics approaches are revolutionizing the understanding and potential management of pediatric NAFLD.
- Future research should focus on integrating omics data for personalized NAFLD diagnosis and therapy.
Abstract:
As a result of the obesity epidemic, non-alcoholic fatty liver disease (NAFLD) represents a global medical concern in childhood with a closely related increased cardiometabolic risk. Knowledge on NAFLD pathophysiology has been largely expanded over the last decades. Besides the well-known key NAFLD genes (including the I148M variant of the PNPLA3 gene, the E167K allele of the TM6SF2, the GCKR gene, the MBOAT7-TMC4 rs641738 variant, and the rs72613567:TA variant in the HSD17B13 gene), an intriguing pathogenic role has also been demonstrated for the gut microbiota. More interestingly, evidence has added new factors involved in the "multiple hits" theory. In particular, omics determinants have been highlighted as potential innovative markers for NAFLD diagnosis and treatment. In fact, different branches of omics including metabolomics, lipidomics (in particular sphingolipids and ceramides), transcriptomics (including micro RNAs), epigenomics (such as DNA methylation), proteomics, and glycomics represent the most attractive pathogenic elements in NAFLD development, by providing insightful perspectives in this field. In this perspective, we aimed to provide a comprehensive overview of NAFLD pathophysiology in children, from the oldest pathogenic elements (including genetics) to the newest intriguing perspectives (such as omics branches).
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