Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease
| Autor: | Naveed Nazir Shah, Arif Bashir, Syed Asrafuzzaman, Nazia Hilal, Mariam Banday, Khalid Majid Fazili, Samirul Bashir, Mudasir Habib, Younis Hazari |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
Male 0301 basic medicine Pulmonary and Respiratory Medicine congenital hereditary and neonatal diseases and abnormalities Proteases Pathology medicine.medical_specialty Exacerbation Inflammation Polymorphism Single Nucleotide Pathogenesis Pulmonary Disease Chronic Obstructive 03 medical and health sciences alpha 1-Antitrypsin Deficiency Parenchyma Humans Medicine Gene Aged COPD biology business.industry Middle Aged medicine.disease 030104 developmental biology alpha 1-Antitrypsin Neutrophil elastase Immunology Disease Progression biology.protein Female medicine.symptom Leukocyte Elastase business |
| Zdroj: | Respiratory Medicine. 117:139-149 |
| ISSN: | 0954-6111 |
| Popis: | Alpha1-antitrypsin (AAT) is one of the major circulating anti-protease whose levels in circulation are raised during excessive amount of proteases, especially neutrophil elastase (NE) released during the course of inflammation. Proteolytic attack of NE on peripheral organs, more exclusively on lung parenchyma has severe consequence that may precipitate pulmonary emphysema. Normally, human body has its own molecular and physiological mechanisms to synthesize and regulate the production of anti-protease like AAT to mitigate the extent of inflammatory damage. AAT coded by serine-protease inhibitor (SERPINA1) is predominantly expressed in hepatocytes and to some extent by macrophages, monocytes, lung tissue etc. The observation that persons with AAT deficiency developed chronic obstructive pulmonary disease (COPD) and early-onset of emphysema proposed a role for pathways connecting AAT in pathogenesis. Extensive studies have been done till now to bridge a connection between numerous genetic polymorphisms of SERPINA1 gene and the early onset of COPD. Here in this review, we have comprehensively discussed some of the variants of SERPINA1 gene discovered till date and their association with the exacerbation of obstructive pulmonary disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect