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The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]

ABSTRACT: Whole genome mRNA and microRNA profiling of bronchoalveolar lavage (BAL) and peripheral blood mononuclear cell (PBMC) in Alpha-1 Antitrypsin Deficiency patients with PiZZ or PiMZ alpha-1 antitrypsin genotypes

ORGANISM(S): Homo sapiens

PROVIDER: GSE109515 | GEO | 2020/11/03

REPOSITORIES: GEO

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The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Sarcoidosis study [Sarc]

Project description:Whole genome mRNA and microRNA profiling of bronchoalveolar lavage (BAL) and peripheral blood mononuclear cell (PBMC) in Sarcoidosis patients

2020-12-08 | GSE109516 | GEO

The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Sarcoidosis study [Sarc]

Project description:The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Sarcoidosis study [Sarc]

| PRJNA431286 | ENA

The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]

Project description:The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study (GRADS) Alpha-1 study [A1AT]

| PRJNA431285 | ENA

Lung microhemorrhage drives macrophage activation and oxidative/inflammatory damage in α-1 antitrypsin deficiency

Project description:Background. Animal models of elastase intratracheal instillation have shown that elastase, unopposed by α-1 antitrypsin (AAT), can induce alveolar hemorrhage with ensuing macrophage inflammation and lung damage. Aim. To identify markers of alveolar hemorrhage and damage using bronchoalveolar lavage (BAL) samples and lung tissue explants from AAT deficient (AATD) subjects. Methods. BAL samples (17 patients, 15 controls) were evaluated for free heme and iron concentrations. Alveolar macrophage (AlvMac) activation patterns were assessed by RNA sequencing and validated in vitro using heme-stimulated monocyte-derived macrophages (MDM). Lung explants (7 patients, 4 controls) were evaluated for iron sequestration patterns, by Prussian blue stain and ferritin immunohistochemistry, and for ferritin iron imaging and elemental analysis by electron microscopy (EM). Tissue oxidative damage was assessed by 8-OHdG immunohistochemistry. Results. BAL showed significantly elevated free heme and iron concentrations at lobar level. BAL macrophage RNA sequencing showed innate proinflammatory activation, consistent with free heme activation. AATD tissue alveolar and interstitial macrophages showed elevated iron and ferritin accumulation in large lysosomes packed with iron oxide cores with degraded ferritin protein cages. AATD explants showed massive oxidative DNA damage in lung epithelial cells and macrophages. Conclusions. Identification of BAL and tissue markers of alveolar hemorrhage, together with the molecular and cellular evidence of macrophage innate pro-inflammatory activation and oxidative damage, consistent with free heme stimulation, provides ex vivo evidence for the pathogenetic role of elastase-induced alveolar hemorrhage AATD emphysema as shown in animal studies.

2023-04-25 | GSE194313 | GEO

Comprehensive characterization of hepatic inflammatory changes in a mouse model of alpha-1 antitrypsin deficiency

Project description:In this study, we sought to thoroughly characterize the liver pathophysiology of a human transgenic mouse model for alpha-1 antitrypsin deficiency (AATD) with a strong manifestation of AATD-mediated liver disease. Male and female transgenic mice for normal variant human alpha-1 antitrypsin (Pi*M) and mutant human alpha-1 antitrypsin (Pi*Z) at 3 and 6 months of age with a C57BL/6J background were subjected to study. The progression of hepatic accumulation of mutant alpha-1 antitrypsin (ZAAT), hepatocyte injury, steatosis, liver inflammation and fibrotic features of this mouse model were monitored by performing an in vivo study.

2023-03-19 | GSE206619 | GEO

Rationale and Design of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study. Alpha-1 Protocol.

Project description: Not available

| S-EPMC4627425 | biostudies-literature

Normal Alpha-1-Antitrypsin variants display in serum allele-specific protein levels

Project description:native mass spectrometry profiles of alpha-1-antitrypsin purified from individual donors. The cohort includes both healthy and diseased donors.

2022-12-20 | MSV000090934 | MassIVE

The anti-inflammation effect of human alpha-1 antitrypsin (hAAT)

Project description:The anti-inflammation effect of human alpha-1 antitrypsin (hAAT)

| PRJNA762471 | ENA

miRNA profiling of sarcoidosis Treg cells

Project description:Sarcoidosis is characterized by exaggerated immune response to unknown agent and can affect different organs. One of the main players in the pathology of the disease are regulatory T cells (Tregs), however up to date there are no insides on the possible molecular alterations of this particular cell subset. Therefore, in the current study we looked for the global changes on miRNA and mRNA level of Tregs of patients with the most predominant form of the disease - pulmonary sarcoidosis (PS). For this purpose we sorted Treg cells from peripheral blood (PB) and bronchoalveolar lavage (BAL) and analyzed the global molecular changes. MiRNA analysis showed major changes in Tregs isolated from PB to the ones from BAL, pointing at the stronger impact of the microenvironment than the disease state. Additionally, several disease-related miRNAs of PB Tregs were identified like miR-155 and miR-223.

2018-09-29 | E-MTAB-6590 | biostudies-arrayexpress

Follicular helper-like T cells in the lung highlight a novel role of B cells in sarcoidosis

Project description:Effector/memory T cells were sorted from sarcoidosis patient's bronchoalveolar lavage (BAL) and peripheral blood (PBMC) as well as healthy donor peripheral blood and tonsil. RNA-sequencing was performed to assess their global phenotype. Total number of samples: 15.

2021-09-07 | GSE162712 | GEO

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