scholarly journals Predicting the Role of SERPINA1 DNA Methylation in Chronic Obstructive Pulmonary Disease and Anaemia and Identification of 3 Novel Methylation Sites

2021 ◽  
Vol 21 (04) ◽  
Author(s):  
A. Vijaya Anand

ABSTRACT Anaemia and chronic obstructive pulmonary disease (COPD) are the common blood and respiratory disorders respectively. The proper lung function is maintained by the SERPINA1 gene predominantly that encodes for alpha 1 antitrypsin protein, which also regulates the iron homeostasis of the human body, whereas imbalance in the iron homeostasis may result in the anaemic condition. The altitudinal variations influence anaemia and COPD. DNA methylation is involved in the early developmental processes, which influences the gene functioning without altering the sequence. The current study has been aimed at analyzing the inter-relationship between anaemia and COPD with DNA methylation of the SERPINA1 gene under altitudinal changes. The methodology involves the DNA isolation, bisulfite conversion and sequencing of the SERPINA1 gene. The results of the current study have shown that SERPINA1 DNA methylation did not significantly involve anaemia and COPD irrespective altitudes, but 3 novel CpG sites cg94377701, cg94389678 and cg94389930 were identified in the SERPINA1 gene of anaemia and COPD patients.

2017 ◽  
Vol 46 ◽  
pp. 11-15 ◽  
Author(s):  
Angelo Zinellu ◽  
Elisabetta Sotgiu ◽  
Alessandro G. Fois ◽  
Elisabetta Zinellu ◽  
Salvatore Sotgia ◽  
...  

2020 ◽  
Vol 2020 ◽  
pp. 1-6 ◽  
Author(s):  
Margarita Y. Pervakova ◽  
Alexandra V. Mazing ◽  
Sergey V. Lapin ◽  
Olga Y. Tkachenko ◽  
Anna I. Budkova ◽  
...  

Chronic obstructive pulmonary disease (COPD) is multifactorial disease, which is characterized by airflow limitation and can be provoked by genetic factors, including carriage of the PiZ allele of the protease inhibitor (Pi) gene, encoding alpha-1 antitrypsin (A1AT). Both homozygous and heterozygous PiZ allele carriers can develop COPD. It was found recently that normal A1AT regulates cytokine levels, including IL-17, which is involved in COPD progression. The aim of this study was to determine whether homozygous or heterozygous PiZ allele carriage leads to elevated level of IL-17 and other proinflammatory cytokines in COPD patients. Materials and Methods. Serum samples and clinical data were obtained from 44 COPD patients, who included 6 PiZZ, 8 PiMZ, and 30 PiMM A1AT phenotype carriers. Serum concentrations of IL-17, IL-6, IL-8, IFN-γ, and TNF-α were measured by the enzyme-linked immunosorbent assay (ELISA). All A1AT phenotypes were verified by narrow pH range isoelectrofocusing with selective A1AT staining. A turbidimetric method was used for quantitative A1AT measurements. Results. COPD patients with both PiZZ and PiMZ phenotypes demonstrated elevated IL-17 and decreased IFN-γ levels in comparison to patients with the PiMM phenotype of A1AT. Thereafter, the ratio IL-17/IFN-γ in PiZZ and PiMZ groups greatly exceeded the values of the PiMM group. Homozygous PiZ allele carriers also had significantly higher levels of IL-6 and lower levels of IL-8, and IL-6 values correlated negatively with A1AT concentrations. Conclusions. The presence of the PiZ allele in both homozygous and heterozygous states is associated with altered serum cytokine levels, including elevated IL-17, IL-17/IFN-γ ratio, and IL-6 (only PiZZ), but lower IFN-γ and IL-8.


Author(s):  
Majed Alghamdi ◽  
Bussma Ahmed Bugis ◽  
Alaa Bugis ◽  
Nader Alharbi ◽  
Saleh Mohammed Alotaibi ◽  
...  

Background: Alpha-1 antitrypsin is an important protein produced by the liver, and deficiency in this protein will cause many liver diseases. A deficiency in this protein can cause congenital emphysema, characterized by damaged and stretched air sacs of the lungs. To our knowledge, limited studies have been performed on liver disease prevalence among chronic obstructive pulmonary disease (COPD) patients in Saudi Arabia. Methods: This study was a secondary data analysis of existing clinical records and aimed at determining the prevalence and association of liver diseases among COPD patients from 2016 to 2020. A total of 1579 clinical records were collected. In this study we analyzed one hundred fifty-five records. Results: Senior patients who were aged 65 or older represented most patients (61.29%). In addition, 81% of the selected COPD patients were diagnosed with cirrhosis, while only one patient was diagnosed with fibrosis. Senior COPD patients aged 65 years or older were more likely to be diagnosed clinically with any type of liver disease (61.75%) than those from younger age groups. Conclusions: Screening and expression tests for patients showing liver and lung diseases are the procedures to determine whether symptoms are due to alpha-1 antitrypsin deficiency. However, this is challenging in patients with COPD.


2017 ◽  
Vol 145 (11-12) ◽  
pp. 580-583
Author(s):  
Danielius Serapinas ◽  
Ruta Nutautiene ◽  
Ruta Pukinskaite ◽  
Daiva Bartkeviciene ◽  
Diana Barkauskiene ◽  
...  

Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction. The aim of our study was to evaluate possible associations of alpha-1 antitrypsin level and lung function in COPD patients with different alpha-1 antitrypsin phenotypes. Methods. Serum alpha-1 antitrypsin concentration from patients (n = 1,167) with COPD, defined according to the GOLD criteria, were analyzed by nephelometry, and alpha-1 antitrypsin phenotype was determined by means of isoelectric-focusing. Results. In COPD patients without alpha-1 antitrypsin deficiency (MM), a significant negative association of lung function (FEV1) with serum alpha-1 antitrypsin (r = -0.511; p < 0.05) and C-reactive protein (CRP) concentrations (r = -0.583; p < 0.05) was detected; moreover, the level of alpha-1 antitrypsin positively correlated with CRP concentration (r = 0.667; p < 0.05). Conclusions. In patients without alpha-1 antitrypsin deficiency, detected negative association of alpha-1 antitrypsin level with FEV1 and positive association with the CRP level defined the importance of alpha-1 antitrypsin for lung function in COPD patients.


2020 ◽  
Vol 29 (2) ◽  
pp. 864-872
Author(s):  
Fernanda Borowsky da Rosa ◽  
Adriane Schmidt Pasqualoto ◽  
Catriona M. Steele ◽  
Renata Mancopes

Introduction The oral cavity and pharynx have a rich sensory system composed of specialized receptors. The integrity of oropharyngeal sensation is thought to be fundamental for safe and efficient swallowing. Chronic obstructive pulmonary disease (COPD) patients are at risk for oropharyngeal sensory impairment due to frequent use of inhaled medications and comorbidities including gastroesophageal reflux disease. Objective This study aimed to describe and compare oral and oropharyngeal sensory function measured using noninstrumental clinical methods in adults with COPD and healthy controls. Method Participants included 27 adults (18 men, nine women) with a diagnosis of COPD and a mean age of 66.56 years ( SD = 8.68). The control group comprised 11 healthy adults (five men, six women) with a mean age of 60.09 years ( SD = 11.57). Spirometry measures confirmed reduced functional expiratory volumes (% predicted) in the COPD patients compared to the control participants. All participants completed a case history interview and underwent clinical evaluation of oral and oropharyngeal sensation by a speech-language pathologist. The sensory evaluation explored the detection of tactile and temperature stimuli delivered by cotton swab to six locations in the oral cavity and two in the oropharynx as well as identification of the taste of stimuli administered in 5-ml boluses to the mouth. Analyses explored the frequencies of accurate responses regarding stimulus location, temperature and taste between groups, and between age groups (“≤ 65 years” and “> 65 years”) within the COPD cohort. Results We found significantly higher frequencies of reported use of inhaled medications ( p < .001) and xerostomia ( p = .003) in the COPD cohort. Oral cavity thermal sensation ( p = .009) was reduced in the COPD participants, and a significant age-related decline in gustatory sensation was found in the COPD group ( p = .018). Conclusion This study found that most of the measures of oral and oropharyngeal sensation remained intact in the COPD group. Oral thermal sensation was impaired in individuals with COPD, and reduced gustatory sensation was observed in the older COPD participants. Possible links between these results and the use of inhaled medication by individuals with COPD are discussed.


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