Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT)
In the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders. Also, they hold promise for guiding therapeutic interventions and...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-03-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/15/3/340 |
| _version_ | 1797240905573335040 |
|---|---|
| author | Jakub Mróz Magdalena Pelc Karolina Mitusińska Joanna Chorostowska-Wynimko Aleksandra Jezela-Stanek |
| author_facet | Jakub Mróz Magdalena Pelc Karolina Mitusińska Joanna Chorostowska-Wynimko Aleksandra Jezela-Stanek |
| author_sort | Jakub Mróz |
| collection | DOAJ |
| description | In the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders. Also, they hold promise for guiding therapeutic interventions and personalized medicine strategies in the future. A comprehensive understanding of the impact of SNVs in the <i>SERPINA1</i> gene on alpha-1 antitrypsin (AAT) protein structure and function requires integrating bioinformatic approaches. Here, we provide a guide for clinicians to navigate through the field of computational analyses which can be applied to describe a novel genetic variant. Predicting the clinical significance of <i>SERPINA1</i> variation allows clinicians to tailor treatment options for individuals with alpha-1 antitrypsin deficiency (AATD) and related conditions, ultimately improving the patient’s outcome and quality of life. This paper explores the various bioinformatic methodologies and cutting-edge approaches dedicated to the assessment of molecular variants of genes and their product proteins using <i>SERPINA1</i> and AAT as an example. |
| first_indexed | 2024-04-24T18:14:52Z |
| format | Article |
| id | doaj.art-8cb965519e5d401d949a1118bd16f1ed |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-04-24T18:14:52Z |
| publishDate | 2024-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-8cb965519e5d401d949a1118bd16f1ed2024-03-27T13:43:08ZengMDPI AGGenes2073-44252024-03-0115334010.3390/genes15030340Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT)Jakub Mróz0Magdalena Pelc1Karolina Mitusińska2Joanna Chorostowska-Wynimko3Aleksandra Jezela-Stanek4Tunneling Group, Biotechnology Center, Silesian University of Technology, Krzywoustego St. 8, 44-100 Gliwice, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka St., 01-138 Warsaw, PolandTunneling Group, Biotechnology Center, Silesian University of Technology, Krzywoustego St. 8, 44-100 Gliwice, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka St., 01-138 Warsaw, PolandDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka St., 01-138 Warsaw, PolandIn the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders. Also, they hold promise for guiding therapeutic interventions and personalized medicine strategies in the future. A comprehensive understanding of the impact of SNVs in the <i>SERPINA1</i> gene on alpha-1 antitrypsin (AAT) protein structure and function requires integrating bioinformatic approaches. Here, we provide a guide for clinicians to navigate through the field of computational analyses which can be applied to describe a novel genetic variant. Predicting the clinical significance of <i>SERPINA1</i> variation allows clinicians to tailor treatment options for individuals with alpha-1 antitrypsin deficiency (AATD) and related conditions, ultimately improving the patient’s outcome and quality of life. This paper explores the various bioinformatic methodologies and cutting-edge approaches dedicated to the assessment of molecular variants of genes and their product proteins using <i>SERPINA1</i> and AAT as an example.https://www.mdpi.com/2073-4425/15/3/340<i>SERPINA1</i>alpha-1 antitrypsinin silico analysiscomputational toolsbioinformaticsnext-generation sequencing |
| spellingShingle | Jakub Mróz Magdalena Pelc Karolina Mitusińska Joanna Chorostowska-Wynimko Aleksandra Jezela-Stanek Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) Genes <i>SERPINA1</i> alpha-1 antitrypsin in silico analysis computational tools bioinformatics next-generation sequencing |
| title | Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) |
| title_full | Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) |
| title_fullStr | Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) |
| title_full_unstemmed | Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) |
| title_short | Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT) |
| title_sort | computational tools to assist in analyzing effects of the i serpina1 i gene variation on alpha 1 antitrypsin aat |
| topic | <i>SERPINA1</i> alpha-1 antitrypsin in silico analysis computational tools bioinformatics next-generation sequencing |
| url | https://www.mdpi.com/2073-4425/15/3/340 |
| work_keys_str_mv | AT jakubmroz computationaltoolstoassistinanalyzingeffectsoftheiserpina1igenevariationonalpha1antitrypsinaat AT magdalenapelc computationaltoolstoassistinanalyzingeffectsoftheiserpina1igenevariationonalpha1antitrypsinaat AT karolinamitusinska computationaltoolstoassistinanalyzingeffectsoftheiserpina1igenevariationonalpha1antitrypsinaat AT joannachorostowskawynimko computationaltoolstoassistinanalyzingeffectsoftheiserpina1igenevariationonalpha1antitrypsinaat AT aleksandrajezelastanek computationaltoolstoassistinanalyzingeffectsoftheiserpina1igenevariationonalpha1antitrypsinaat |