Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID‐19

The coronavirus disease 2019 (COVID-19) pandemic has triggered a global health crisis, with over 700 million confirmed cases and at least 7 million deaths reported by early 2024. Children are less vulnerable to severe SARS-CoV-2 infection than adults and typically experience milder respiratory symptoms. However, a rare but significant complication, known as multisystem inflammatory syndrome in children (MIS-C), can develop weeks after infection, characterized by a spectrum of inflammatory symptoms. This study employed whole-exome sequencing and over-representation analysis to identify genetic variants of potential clinical significance related to MIS-C or severe COVID-19 in a group of children with acute respiratory distress syndrome (ARDS), all of whom were unvaccinated for COVID-19. We observed the enrichment of potentially pathogenic genetic variants in genes related to carbohydrate metabolism, particularly glycogen breakdown, in severe COVID-19 pediatric patients, and in genes related to cholesterol and lipoprotein metabolism in MIS-C patients. These findings offer insights into the genetic underpinnings of MIS-C and severe COVID-19, suggesting potential genes and biological pathways for further research.

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Publication Details

Journal
Journal of Medical Virology
Published
2025-08-01
DOI
https://doi.org/10.1002/jmv.70556
Primary Topic
Liver Disease Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID‐19

Irina Nastassja Riediger, Patrícia Savio de Araujo‐Souza, Tiago Minuzzi Freire da Fontoura Gomes, Juliana Fontes Noguchi et al.
Journal of Medical Virology
Liver Disease Diagnosis and Treatment
article

Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID‐19

Irina Nastassja Riediger, Patrícia Savio de Araujo‐Souza, Tiago Minuzzi Freire da Fontoura Gomes, Juliana Fontes Noguchi, Carme Ribas, Vinícius da Silva Coutinho Parreira, Fábio Passetti, Benilton S. Carvalho, Helisson Faoro, Bárbara Carvalho Santos dos Reis, Deborah Antunes dos Santos, Ana Carolina Ramos Guimarães, Liya Regina Mikami, Esdras Matheus Gomes da Silva, Arnaldo Prata‐Barbosa, Michelle Orane Schemberger, Fabrício Klerynton Marchini, Jaqueline Carvalho de Oliveira, Maurício Marcondes Ribas, Maria Regina Tizzot, Henrique Lira Borges, Lucas de Almeida Machado, Fábio Fernandes da Rocha Vicente, Rubens Cat, Jeanine Marie Nardin, Roberta Soares Faccion, Gilberto Pascolat, Alysson H. Urbanski, Flávia Anisio Amendola, Alexandre Rossi Paschoal, Acácia Maria Lourenço Francisco Nasr, Luís Gustavo Morello, Daniella Campelo Batalha Cox Moore, Margarida dos Santos Salú, Letícia Graziela Costa Santos, Marcus F. Oliveira, Mayra Marinho Presibella, Daniela P. Cunha, Flávia Cristina de Paula Freitas, Zilton Vasconcelos, Luiz Lehmann Coutinho, Hellen Geremias dos Santos, Lais Kimie Tomiura, Luiza Silva de Castro
article en

Abstract

The coronavirus disease 2019 (COVID-19) pandemic has triggered a global health crisis, with over 700 million confirmed cases and at least 7 million deaths reported by early 2024. Children are less vulnerable to severe SARS-CoV-2 infection than adults and typically experience milder respiratory symptoms. However, a rare but significant complication, known as multisystem inflammatory syndrome in children (MIS-C), can develop weeks after infection, characterized by a spectrum of inflammatory symptoms. This study employed whole-exome sequencing and over-representation analysis to identify genetic variants of potential clinical significance related to MIS-C or severe COVID-19 in a group of children with acute respiratory distress syndrome (ARDS), all of whom were unvaccinated for COVID-19. We observed the enrichment of potentially pathogenic genetic variants in genes related to carbohydrate metabolism, particularly glycogen breakdown, in severe COVID-19 pediatric patients, and in genes related to cholesterol and lipoprotein metabolism in MIS-C patients. These findings offer insights into the genetic underpinnings of MIS-C and severe COVID-19, suggesting potential genes and biological pathways for further research.

Journal of Medical VirologyVol. 97(8)
Universidade Federal do Rio de Janeiro (BR), Universidade Tecnológica Federal do Paraná (BR), Universidade Federal Fluminense (BR), Pontifícia Universidade Católica do Paraná (BR), Universidade Federal de São Carlos (BR), Universidade de São Paulo (BR), Universidade Estadual de Campinas (UNICAMP) (BR), Universidade do Estado do Pará (BR), D’Or Institute for Research and Education (BR), Hospital Universitário Evangélico de Curitiba (BR), Hospital São Rafael (BR), Instituto Nacional de Saúde (MZ), Secretaria da Saúde (BR), Faculdade Evangélica do Paraná (BR), Instituto Nacional de Ciência e Tecnologia em Entomologia Molecular (BR), Fundação Carlos Chagas (BR), Fundação Oswaldo Cruz (BR), Universidade Federal do Paraná (BR)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro, Fundação Araucária, Fundação Oswaldo Cruz
Openalex Percentile: Top 71%
Liver Disease Diagnosis and Treatment
DOIOpen Access PDFOpenAlex
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