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Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients' Samples Reveals Perturbations in Tissue-Specific Pathways.
de Faria Poloni, Joice; Rispoli, Thaiane; Rossetti, Maria Lucia; Trindade, Cristiano; Vargas, José Eduardo.
Afiliación
  • de Faria Poloni J; Laboratório de Bioinformática Estrutural e Biologia Computacional, Instituto de Informática, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
  • Rispoli T; Laboratório de Bioinformática em Bioenergia (LBB), Embrapa Agroenergia Parque Estação Biológica, Brasília, DF, Brazil.
  • Rossetti ML; Programa de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
  • Trindade C; Centro de Desenvolvimento Científico e Tecnológico (CDCT), Centro Estadual de Vigilância em Saúde (CEVS) Secretaria da Saúde do Estado do Rio Grande do Sul (SES-RS), Porto Alegre, RS, Brazil.
  • Vargas JE; Programa de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Biomed Res Int ; 2021: 5262000, 2021.
Article en En | MEDLINE | ID: mdl-34901273
Cystic fibrosis (CF) is an autosomal recessive disorder, caused by diverse genetic variants for the CF transmembrane conductance regulator (CFTR) protein. Among these, p.Phe508del is the most prevalent variant. The effects of this variant on the physiology of each tissue remains unknown. This study is aimed at predicting cell signaling pathways present in different tissues of fibrocystic patients, homozygous for p.Phe508del. The study involved analysis of two microarray datasets, E-GEOD-15568 and E-MTAB-360 corresponding to the rectal and bronchial epithelium, respectively, obtained from the ArrayExpress repository. Particularly, differentially expressed genes (DEGs) were predicted, protein-protein interaction (PPI) networks were designed, and centrality and functional interaction networks were analyzed. The study reported that p.Phe508del-mutated CFTR-allele in homozygous state influenced the whole gene expression in each tissue differently. Interestingly, gene ontology (GO) term enrichment analysis revealed that only "neutrophil activation" was shared between both tissues; however, nonshared DEGs were grouped into the same GO term. For further verification, functional interaction networks were generated, wherein no shared nodes were reported between these tissues. These results suggested that the p.Phe508del-mutated CFTR-allele in homozygous state promoted tissue-specific pathways in fibrocystic patients. The generated data might further assist in prediction diagnosis to define biomarkers or devising therapeutic strategies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transducción de Señal / Fibrosis Quística Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Biomed Res Int Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transducción de Señal / Fibrosis Quística Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Biomed Res Int Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos