Introduction: The SERPINA1 gene encodes the protein Alpha-1 Antitrypsin (AAT1). Possible imbalances between the concentrations of proteases and antiproteases (AAT1) can lead to the development of serious pulmonary and extrapulmonary pathologies. In this work we study the importance of this possible imbalance in patients with COVID-19.
Objectives: To correlate the severity of the symptoms of SARS-COV-2 infection with the AAT1 concentrations at diagnosis of the disease.
Methods: An observational, prospective, cross-sectional, non-interventional, analytical study was carried out where 181 cases with COVID-19 admitted to the "Lozano Blesa" University Clinical Hospital of Zaragoza were selected. The concentration of AAT1 was studied in all of them and this was correlated with the clinical aspects and biochemical parameters at hospital admission.
Results: 141 cases corresponded to patients with severe COVID and 40 patients with mild COVID. AAT1 levels were positively correlated with the days of hospitalization, severity, C-Reactive Protein, ferritin, admission to Intensive Care, and death, and presented a negative correlation with the number of lymphocytes/mm3. AAT1 concentrations higher than 237.5 mg/dL allowed the patient to be classified as "severe" (S72%; E78%) and 311.5 mg/dL were associated with the risk of admission to Intensive Care or Exitus (S67%; E79%).
Conclusions: Levels of the SERPINA1 gene expression product, AAT1, correlate with the severity of COVID-19 patients at diagnosis of the disease, being useful as a prognostic biomarker.
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http://dx.doi.org/10.1016/j.rceng.2024.04.006 | DOI Listing |
BMC Pulm Med
December 2024
School of Medicine, Department of Chest Diseases, Recep Tayyip Erdoğan University, Rize, Turkey.
Background: Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified. Despite these findings and recommendations from major healthcare organizations, testing of COPD patients and their family members for AATD remains inadequate.
View Article and Find Full Text PDFJ Allergy Clin Immunol
December 2024
Department of Internal Medicine, Division of Rheumatology, Allergy and Immunology, University of Cincinnati College of Medicine, Cincinnati, Ohio; Bernstein Allergy Group LLC and Bernstein Clinical Research Center LLC, Cincinnati, Ohio. Electronic address:
Background: Approximately 85% of hereditary angioedema (HAE) attacks are associated with prodromal symptoms.
Objective: We investigated the clinical effect of treating HAE C1-esterase inhibitor (HAE-C1-INH) type 1 patients with recombinant human C1-INH (rhC1-INH) during their prodrome versus an active swelling episode and associated changes in blood transcriptomic genes and pathways before and after treatment.
Methods: A 2-center, unblinded, case-crossover study randomly assigned 5 HAE-C1-INH type 1 patients to prodrome or attack treatment groups; after a patient was treated for either 2 prodromes or 2 HAE attacks, they were crossed over to be treated for 2 HAE attacks or 2 prodromes.
Hum Mol Genet
December 2024
Department of Thyroid Gland and Breast Surgery, Lishui People's Hospital, 6th Affiliated Hospital of Wenzhou Medical University, 15 Dazhong Street, Liandu District, Lishui, Zhejiang 323000, China.
Background: Endoplasmic Reticulum Stress (ER stress) was an important event in the development of breast cancer. We aimed to predict prognosis based on ER stress related key genes.
Methods: Data of the RNA-seq and clinical information of breast cancer cases were downloaded from the TCGA database.
J Bras Pneumol
December 2024
. Vall d'Hebron Institut de Recerca - VHIR - Hospital Universitário Valld'Hebron, Barcelona, España.
Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed.
View Article and Find Full Text PDFPulmonology
December 2025
Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, San Matteo, Pavia, Italy.
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