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Untargeted Maternal Plasma Metabolomics in Hirschsprung Disease: A Pilot Study
Shalini G Hegde1, Sarita Devi1, Roshni M Pasanna1
1Department of Paediatric Surgery, Bengaluru, Karnataka, India.
Journal of Indian Association of Pediatric Surgeons
|February 26, 2024
Summary
Maternal plasma analysis reveals distinct metabolic profiles in mothers of children with Hirschsprung disease (HSCR). Specific metabolites, including carnitines and fatty acids, may play a role in HSCR development, offering new insights into this congenital disorder.
Area of Science:
- Developmental Biology
- Metabolomics
- Pediatric Disorders
Background:
- Hirschsprung disease (HSCR) is a congenital disorder affecting the enteric nervous system (ENS).
- ENS development is influenced by the prenatal maternal metabolic environment.
- The etiology of HSCR remains largely unknown.
Purpose of the Study:
- To investigate the association between maternal plasma metabolites and Hirschsprung disease.
- To explore the role of the maternal metabolic environment in HSCR pathogenesis.
Main Methods:
- Cross-sectional study analyzing maternal plasma samples from HSCR cases (n=7) and controls (n=6).
- Untargeted metabolomics using ultra-high-pressure liquid chromatography and mass spectrometry.
- Metabolite identification via mzCloud and Compound Discoverer software.
Main Results:
- 268 unique plasma metabolites identified; 57 showed significant differences between groups (P < 0.05).
- 19 metabolites, including carnitines, medium-chain fatty acids, and glutamic acid, were significantly different in HSCR cases after FDR correction.
- Affected metabolic pathways involved amino acid and lipid metabolism.
Conclusions:
- Maternal metabolic pathways may contribute to the etiopathogenesis of Hirschsprung disease.
- This pilot study is the first to examine maternal plasma metabolomics in relation to HSCR.
- Findings suggest a potential link between maternal metabolic dysregulation and fetal HSCR development.
