Differential mRNA expression in C57BL/6 mice with bleomycin-induced pulmonary fibrosis and its association with LncRNA co-expression network / 南方医科大学学报

OBJECTIVE@#To study the changes in mRNA and long non-coding RNA (lncRNA) expression profiles in a mouse model of bleomycin-induced lung fibrosis and identify lung fibrosis-related mRNA for coding-noncoding coexpression (CNC) bioinformatics analysis of the differential lncRNAs.@*METHODS@#Lung fibrosis was induced by intratracheal injection of bleomycin in 10 C57BL/6 mice and another 10 mice with intratracheal injection of saline served as the control group. Lung tissues were harvested from the mice at 14 days after the injections and lung fibrosis was assessed using Masson and HE staining. LncRNA chip technology was used to screen the differentially expressed mRNAs and lncRNAs in mice with lung fibrosis, and GO and KEGG pathway analyses of the differential mRNAs were performed using NCBI database and UCSC database to identify possible fibrosis-related mRNAs, which were validated by qRT-PCR to construct a coding and non-coding co- expression network with the differential lncRNAs.@*RESULTS@#Compared with the control mice, the mice with intratracheal injection of bleomycin showed obvious lung fibrosis. The results of gene chip analysis showed that 127 mRNAs were upregulated and 184 mRNAs were down-regulated in the model group as compared with the control group. GO and pathway analysis suggested that the differentially expressed genes participated mainly in immune response, cell differentiation, and cytoskeletons; the involved signal pathways were associated mainly with cytokine and cytokine receptor interaction and chemokine signal transduction. Bioinformatics analysis identified a significant coexpression network between the fibrosisrelated mRNA and the differentially expressed lncRNA.@*CONCLUSIONS@#In mice with lung fibrosis, the differential expressions of fibrosis-related mRNAs in the lung tissues are closely correlated with the co- expressions of a large number of differential lncRNAs, which points to a new direction for investigation of the pathogenesis of pulmonary fibrosis.

Familial idopathic pulmonary fibrosis in three lebanese siblings. Case report with long-term follow-up

This is the first report of a familial cluster of idiopathic pulmonary fibrosis [IPF] in Lebanon. This rare variant of IPF has an autosomal dominant mode of inheritance with variable expressivity, and is commonly associated with a mutation of the surfactant protein C gene. The patients are younger at diagnosis but have otherwise identical clinical, radiological, and histological features as the more common non-familial cases. IPF is an invariably fatal disease with no effective treatment. Lung transplantation remains the only chance for more prolonged survival and must be considered in young patients

Fibrosis quística: actualización en sus aspectos básicos / Cystic Fibrosis: an overview of its basic aspects

Los avances en torno al conocimiento de la proteína de regulación de transmembrana de la fibrosis quística (CFTR) han permitido entender mejor la fisiopatología de ésta enfermedad y la compleja relación genotipo-fenotipo. Los diversos fenotipos clínicos están influenciados no sólo por la clase de mutación registrada, sino también por factores ambientales y probablemente otros genes reguladores. CFTR regula la composición y cantidad de líquido en el epitelio de la vía aérea, primariamente por su acción sobre el cloro, pero también regula diferentes canales y transporta otras moléculas. Además, CFTR regula una respuesta inflamatoria frente a bacterias como Pseudomona aeruginosa y Staphylococcus aureus. Es probable que todos estos factores influyen en la historia natural de la FQ de cada paciente. El entendimiento de los aspectos básicos y sus implicancias clínicas podría brindar futuras y nuevas aproximaciones terapeúticas.

¿Existe un gen específico en la fibrosis intersticial familiar? / Is there a specific gen for familiar interstitial fibrosis?

La fibrosis interstical pulmonar difusa es una enfermedads poco frecuente que ha tenido un incremento substancial en los últimos años, sin embargo, existe una forma familiar con características autosómaticas dominantes sin que hasta el momento se haya encontrado un gen específico en su transmisión. El objeto del presente trabajo es el reportar en análisis de tres generaciones en donde existieron características comunes e identificándose sistemas genéticos especificos. Se trató de una familia integrada por tres generaciones, dos de las cuales resultaron con datos clínicos radiológicos, funcionales y anatomopatológicos de fibrosis interstical difusa, los antígenos de histocompartibles clase I y II compartieron alelos parecidos (A28, Bw26, Cw3, DR4 y DQ3) en los pacientes analizados, el estudio genético denterminó un carácter autosómico dominante con penetrancia variable de lo que se concluye que lis alotipos axpresados en el sistema HLA juega un papel determinante en el desarrollo de la enfermedad.