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Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe

Alysson Henrique Urbanski1, Flávia Cristina de Paula Freitas1,2,3, Tiago Minuzzi Freire da Fontoura Gomes1

  • 1Instituto Carlos Chagas, FIOCRUZ, Curitiba, Paraná, Brazil.

Journal of Medical Virology
|August 16, 2025
PubMed

Insights

Genetic variants in carbohydrate metabolism pathways were linked to severe COVID-19 in children, while cholesterol metabolism genes were associated with multisystem inflammatory syndrome in children (MIS-C). This research explores genetic factors in pediatric COVID-19 complications.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • The COVID-19 pandemic caused a global health crisis, with children generally experiencing milder symptoms.
  • Multisystem inflammatory syndrome in children (MIS-C) is a rare but serious complication developing weeks after SARS-CoV-2 infection.
  • Understanding the genetic basis of severe COVID-19 and MIS-C in children is crucial for targeted interventions.

Purpose of the Study:

  • To identify genetic variants associated with severe COVID-19 and MIS-C in unvaccinated children with acute respiratory distress syndrome (ARDS).
  • To explore potential biological pathways implicated in these pediatric COVID-19 complications.

Main Methods:

  • Whole-exome sequencing was performed on pediatric patients with ARDS due to COVID-19.
  • Over-representation analysis was used to identify enriched genetic variants and pathways.
  • Genetic findings were compared between severe COVID-19 and MIS-C patient groups.

Main Results:

  • Enrichment of potentially pathogenic genetic variants in carbohydrate metabolism genes (glycogen breakdown) was observed in severe COVID-19 pediatric patients.
  • Enrichment of genetic variants in cholesterol and lipoprotein metabolism genes was found in MIS-C patients.
  • These findings highlight distinct genetic predispositions for different pediatric COVID-19 outcomes.

Conclusions:

  • Genetic factors play a role in the diverse clinical presentations of COVID-19 in children.
  • Carbohydrate and lipid metabolism pathways are implicated in severe COVID-19 and MIS-C.
  • Further research into these genetic underpinnings may reveal novel therapeutic targets.

Keywords:
COVID‐19MIS‐C (multisystem inflammatory syndrome in children)carbohydrate metabolismcholesterol metabolismgenetic variantswhole‐exome sequencing

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