Alpha 1-antitrypsin deficiency historical perspective: Difference between revisions

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{{Alpha 1-antitrypsin deficiency}}
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==Overview==
==Overview==
Alpha 1-antitrypsin deficiency (A1AD) is a relatively new disease. It was discovered in 1963 by Swedish researchers investigating the context of developed emphysema.
Alpha 1-antitrypsin deficiency (A1AD) was discovered in 1963 by Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden. In 1969, Sharp ''et al'' was the first to discover the association between liver disease and development of A1AD.


==Historical Perspective==
==Historical Perspective==
A1AD was discovered in 1963 by Carl-Bertil Laurell (1919–2001), at the University of Lund, Sweden.<ref name=Laurell_1963>{{cite journal | author = Laurell CB, Eriksson S | title = The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency | journal = Scand J Clin Lab Invest | year = 1963 | volume = 15 | issue = | pages = 132&ndash;140 | url= }}</ref>
*In 1963, Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden was the first to discover A1AD at the General Hospital in Malmö, Sweden.<ref name="Laurell_1963">{{cite journal | author = Laurell CB, Eriksson S | title = The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency | journal = Scand J Clin Lab Invest | year = 1963 | volume = 15 | issue = | pages = 132&ndash;140 | url= }}</ref><ref name="Sharp_1969">{{cite journal | author = Sharp H, Bridges R, Krivit W, Freier E | title = Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. | journal = J Lab Clin Med | volume = 73 | issue = 6 | pages = 934-9 | year = 1969 | id = PMID 4182334}}</ref>
 
*Laurell, along with a medical resident, Sten Eriksson, observed the absence of the α<sub>1</sub> band on protein [[electrophoresis]] in samples of patients. 60% of these patients were had developed [[emphysema]] at a young age.
Laurell, along with a medical resident, Sten Eriksson, made the discovery after noting the absence of the α<sub>1</sub> band on protein [[electrophoresis]] in five of 1500 samples; three of the five patient samples were found to have developed emphysema at a young age.
*In 1964, Gross described the animal model of [[emphysema]] caused by intratracheally instilled papain.
 
*In 1967, Fagerhol described associated allelic variation of AAT.
The link with liver disease was made six years later, when Sharp ''et al'' described A1AD in the context of liver disease.<ref name=Sharp_1969>{{cite journal | author = Sharp H, Bridges R, Krivit W, Freier E | title = Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. | journal = J Lab Clin Med | volume = 73 | issue = 6 | pages = 934-9 | year = 1969 | id = PMID 4182334}}</ref>
*In 1967, Janoff described [[neutrophil]] elastase.
===Molecular Biology===
*In 1969, Sharp described association with neonatal [[cirrhosis]]. Sharp ''et al'' was the first to discover the association between [[liver]] [[disease]] and development of A1AD.
Laurell and Eriksson first discovered alpha-1 antitrypsin (alpha-1 AT) deficiency at the General Hospital in Malmö, Sweden in 1963. Alpha-1 AT is the protease inhibitor in highest concentration in human plasma, and although it is a good inhibitor of trypsin, its primary physiologic target is neutrophil elastase. Alpha-1 AT belongs to the serpin class of serine protease inhibitors, and is synthesized and secreted primarily by hepatocytes, but also the mononuclear phagocytes. Other examples of the serpin class of protease inhibitors include antithrombin, C1-inhibitor, and the many inhibitors of plasminogen.  The serine protease inhibitors have a unique ability to undergo a conformational change.  An advantage of this molecular mobility is that it enables the inhibitor to snare its target protease and tightly entrap it, forming a complex that can remain stable for hours. A potential disadvantage, however, is that it makes the serpins more than usually vulnerable for dysfunctional mutations.


==References==
==References==

Latest revision as of 16:43, 23 January 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) was discovered in 1963 by Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden. In 1969, Sharp et al was the first to discover the association between liver disease and development of A1AD.

Historical Perspective

  • In 1963, Carl-Bertil Laurell (1919–2001) and Eriksson at the University of Lund, Sweden was the first to discover A1AD at the General Hospital in Malmö, Sweden.[1][2]
  • Laurell, along with a medical resident, Sten Eriksson, observed the absence of the α1 band on protein electrophoresis in samples of patients. 60% of these patients were had developed emphysema at a young age.
  • In 1964, Gross described the animal model of emphysema caused by intratracheally instilled papain.
  • In 1967, Fagerhol described associated allelic variation of AAT.
  • In 1967, Janoff described neutrophil elastase.
  • In 1969, Sharp described association with neonatal cirrhosis. Sharp et al was the first to discover the association between liver disease and development of A1AD.

References

  1. ↑ Laurell CB, Eriksson S (1963). "The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency". Scand J Clin Lab Invest. 15: 132&ndash, 140.
  2. ↑ Sharp H, Bridges R, Krivit W, Freier E (1969). "Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder". J Lab Clin Med. 73 (6): 934–9. PMID 4182334.


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