title: Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
abstract: 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.
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Arif
authors: A
authors: Bashir
authors: Department of Chest Medicine, Government Medical College, Srinagar, 190006, J&K, India. Electronic address: naveednazirshah@yahoo.com.
authors: Naveed Nazir
authors: NN
authors: Shah
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Younis Mohammad
authors: YM
authors: Hazari
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Mudasir
authors: M
authors: Habib
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Samirul
authors: S
authors: Bashir
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Nazia
authors: N
authors: Hilal
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India.
authors: Mariam
authors: M
authors: Banday
authors: Department of Zoology, North Orissa University, 757003, India.
authors: Syed
authors: S
authors: Asrafuzzaman
authors: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India. Electronic address: fazili@kashmiruniversity.ac.in.
authors: Khalid Majid
authors: KM
authors: Fazili
mesh_terms: D000328:Adult; D000368:Aged; D018450:Disease Progression; D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D029424:Pulmonary Disease, Chronic Obstructive / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology
chemical_list: C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin; D019272:Leukocyte Elastase