RT Journal Article
T1 Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome
A1 Alba Rubio, Claudio
A1 Herranz Sorribes, Carmen
A1 Monroy, Miguel A
A1 Aragón, Alberto
A1 Jurado Escobar, Rubén
A1 Díaz-Regañón Fernández, David Rafael
A1 Sánchez, César
A1 Tolín, Mar
A1 Miranda, Carmen
A1 Gómez-Taylor, Bárbara
A1 Sempere, Francisca
A1 Álvarez Calatayud, Guillermo
A1 Rodríguez Gómez, Juan Miguel
AB Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a developmental delay and autism spectrum disorder (ASD)-like behaviors. Emerging researchsuggests a link between gut microbiota and neuropsychiatric conditions, including PMS. This study aimed to investigate the fecal microbiota and immune profiles of children with PMS comparedto healthy controls. Fecal samples were collected from children diagnosed with PMS and age matched healthy controls. The bacterial composition was analyzed using 16S rRNA gene sequencing,while short-chain fatty acids (SCFAs) were quantified through gas chromatography. Immunological profiling was conducted using a multiplex cytokine assay. Significant differences were observed inthe gut microbiota composition between PMS patients and controls, including a lower abundance of key bacterial genera such as Faecalibacterium and Agathobacter in PMS patients. SCFA levels were alsoreduced in PMS patients. Immunological analysis revealed higher levels of several pro-inflammatory cytokines in the PMS group, although these differences were not statistically significant. The findingsindicate that children with PMS have distinct gut microbiota and SCFA profiles, which may contribute to the gastrointestinal and neurodevelopmental symptoms observed in this syndrome. These resultssuggest potential avenues for microbiota-targeted therapies in PMS.
PB MDPI
YR 2024
FD 2024
LK https://hdl.handle.net/20.500.14352/110372
UL https://hdl.handle.net/20.500.14352/110372
LA eng
NO Alba, C., Herranz, C., Monroy, M. A., Aragón, A., Jurado, R., Díaz-Regañón, D., Sánchez, C., Tolín, M., Miranda, C., Gómez-Taylor, B., Sempere, F., Álvarez-Calatayud, G., & Rodríguez, J. M. (2024). Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome. Microorganisms, 12(10), 2006. https://doi.org/10.3390/microorganisms12102006
NO Author Contributions: Conceptualization, J.M.R.; writing—original draft preparation, C.A., C.H., M.A.M., J.M.R., A.A., R.J., D.D.-R., C.S., M.T., C.M., B.G.-T., F.S. and G.Á.-C.; data analysis, C.A.and C.H.; sample analysis, C.H., A.A., R.J. and D.D.-R.; patient management and demographic data collection, M.A.M., C.S., M.T., C.M., B.G.-T., F.S. and G.Á.-C. All authors have read and agreed to thepublished version of the manuscript.Funding: This research was funded by the resources of the Spanish PMS Association (Asociación Síndrome Phelan-McDermid; Boadilla del Monte, Madrid, Spain) and by Complutense University ofMadrid, grant UCM920080Data Availability Statement:The 16S rRNA gene sequences analyzed in this study are available in the NCBI repository under the accession code PRJNA1155863. Further inquiries can be directed tothe corresponding authors
NO Universidad Complutense de Madrid
NO Asociación Síndrome Phelan-McDermid (España)
DS Docta Complutense
RD 6 abr 2025