98%
921
2 minutes
20
Corona Virus Disease 2019 (COVID-19) has emerged as a pandemic leading to unprecedented disruption of global health and economy. Transmembrane protease serine 2 (TMPRSS2) has been found to be critical in priming the viral spike protein and the host ACE2 receptor before the virus enters into the host cell. Recent studies have experimentally demonstrated that Alpha 1 antitrypsin (encoded by SERPINA1 gene) is an inhibitor of TMPRSS2 and provided support to the already approved therapy as a candidate for COVID-19. Interestingly Alpha 1 antitrypsin deficiency is common among Europeans. Here we have provided in silico evidence that Alpha 1 antitrypsin can interact with TMPRSS2 and both of them are co-expressed in the human liver and lung. We then analyzed the gnomAD dataset to show that Europeans and Latinos have a substantially higher carrier frequency of Alpha 1 Antitrypsin Deficiency (~12%) compared to other large ethnicities. Therefore, we hypothesize that Alpha 1 antitrypsin deficiency might be a risk factor for severe infection with SARS-CoV-2. We propose Alpha 1 antitrypsin status as a potential prognostic predictor of COVID-19 outcome.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796667 | PMC |
http://dx.doi.org/10.1016/j.mehy.2021.110485 | DOI Listing |
Commun Med (Lond)
September 2025
School of Life Science and Technology, Institute of Science Tokyo, 2-12-1, Ookayama, Meguro-ku, Tokyo, Japan.
Background: Global warming exacerbates heatstroke, increasing its severity and associated health risks, including fatal kidney damage. Predicting post-heatstroke organ injury remains difficult, delaying timely medical intervention. This study aims to identify potential blood biomarkers that reflect organ stress and recovery status following heatstroke.
View Article and Find Full Text PDFGene
August 2025
Genetics Laboratory, Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna (ULL), Tenerife, Spain; Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna (ULL), Tenerife, Spain.
Introduction: Certain variants in the SERPINA1 gene cause Alpha-1 antitrypsin deficiency (AATD). Null SERPINA1 alleles result in the full absence of circulating AAT, which increases the severity of AATD-related respiratory illnesses. PI*S-plus alleles are the combination in cis of the PI*S allele with another variant that confers more deleterious features to the haplotype.
View Article and Find Full Text PDFLaryngoscope
September 2025
Department of Otorhinolaryngology, Zealand University Hospital, Køge, Denmark.
Objective: To estimate the risk of cholesteatoma in patients with alpha-1 antitrypsin deficiency (AATD) compared to the general population using time-to-event analysis.
Methods: We conducted a nationwide nested cohort study identifying all patients with AATD in Denmark and subsequently matching each case with up to 10 controls based on age, sex, and municipality. Hazard ratios (HR) of cholesteatoma by AATD were calculated using Cox regression analysis adjusted for age and sex.
Mol Ther
August 2025
RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA; Department of Molecular Medicine, University of Massachusetts Chan Medic
Alpha-1 antitrypsin deficiency (AATD) is commonly caused by a G-to-A mutation in the SERPINA1 gene (the PiZ mutation). The mutant PiZ AAT protein is sequestered in hepatocytes, causing lung emphysema due to insufficient AAT protein to inhibit neutrophil elastase in the lung. Here, we show that a compact adenine base editor (ABE) with an evolved Cas9 nickase derived from Neisseria meningitidis (eNme2.
View Article and Find Full Text PDFJ Pharm Biomed Anal
August 2025
Department of Endocrinology and Metabolism, The Fifth Affiliated Hospital, Sun Yat-Sen University, Zhuhai, Guangdong Province 519000, China. Electronic address:
Cervical cancer (CC) remains the most prevalent malignant tumor in the female reproductive system. However, the absence of specific biomarkers and typical clinical manifestations in the early stages significantly impedes early diagnosis, prevention, and treatment efforts. Sensitive, non-invasive biomarkers are urgently necessary for the early detection of CC.
View Article and Find Full Text PDF