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DOI 10.1002/jmv.70556

Медицинская библиотека · Journal of medical virology · 2025

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

Urbanski Alysson Henrique, Freitas Flávia Cristina de Paula, Gomes Tiago Minuzzi Freire da Fontoura, Schemberger Michelle Orane, Reis Bárbara Carvalho Santos Dos, Carvalho Flavia Amêndola Anísio de, Faccion Roberta Soares, Machado Lucas de Almeida, Santos Deborah Antunes Dos, Cunha Daniela Prado, Salú Margarida Dos Santos, Moore Daniella Campelo Batalha Cox, Presibella Mayra Marinho, Noguchi Juliana Fontes, Borges Henrique Lira, Tomiura Lais Kimie, Silva de Castro Luiza, Santos Letícia Graziela Costa, Silva Esdras Matheus Gomes da, Parreira Vinícius Da Silva Coutinho, Morello Luis Gustavo, Marchini Fabricio Klerynton, Tizzot Maria Regina, Ribas Mauricio Marcondes, Pascolat Gilberto, Ribas Carmen Australia Paredes Marcondes, Vicente Fábio Fernandes da Rocha, Paschoal Alexandre Rossi, Cat Rubens, Carvalho Benilton de Sá, Carvalho de Oliveira Jaqueline, Oliveira Marcus F, Coutinho Luiz Lehmann, Nasr Acácia Maria Lourenço Francisco, Riediger Irina Nastassja, Nardin Jeanine Marie, Mikami Liya Regina, Guimarães Ana Carolina Ramos, Savio de Araujo-Souza Patricia, Prata-Barbosa Arnaldo, Vasconcelos Zilton Farias Meira de, Faoro Helisson, Geremias Dos Santos Hellen, Passetti Fabio

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Аннотация

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.

Для цитирования: Urbanski Alysson Henrique, Freitas Flávia Cristina de Paula, Gomes Tiago Minuzzi Freire da Fontoura, Schemberger Michelle Orane, Reis Bárbara Carvalho Santos Dos, Carvalho Flavia Amêndola Anísio de, Faccion Roberta Soares, Machado Lucas de Almeida, Santos Deborah Antunes Dos, Cunha Daniela Prado, Salú Margarida Dos Santos, Moore Daniella Campelo Batalha Cox, Presibella Mayra Marinho, Noguchi Juliana Fontes, Borges Henrique Lira, Tomiura Lais Kimie, Silva de Castro Luiza, Santos Letícia Graziela Costa, Silva Esdras Matheus Gomes da, Parreira Vinícius Da Silva Coutinho, Morello Luis Gustavo, Marchini Fabricio Klerynton, Tizzot Maria Regina, Ribas Mauricio Marcondes, Pascolat Gilberto, Ribas Carmen Australia Paredes Marcondes, Vicente Fábio Fernandes da Rocha, Paschoal Alexandre Rossi, Cat Rubens, Carvalho Benilton de Sá, Carvalho de Oliveira Jaqueline, Oliveira Marcus F, Coutinho Luiz Lehmann, Nasr Acácia Maria Lourenço Francisco, Riediger Irina Nastassja, Nardin Jeanine Marie, Mikami Liya Regina, Guimarães Ana Carolina Ramos, Savio de Araujo-Souza Patricia, Prata-Barbosa Arnaldo, Vasconcelos Zilton Farias Meira de, Faoro Helisson, Geremias Dos Santos Hellen, Passetti Fabio. Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.. Journal of medical virology. 2025. DOI: 10.1002/jmv.70556.

Предметные рубрики MeSH

HumansCOVID-19ChildSystemic Inflammatory Response SyndromeMaleFemaleGenetic VariationMetabolic Networks and PathwaysChild, PreschoolSARS-CoV-2AdolescentExome SequencingCarbohydrate MetabolismInfant
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