Chest
SymposiumAlpha1-antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives
Section snippets
Separation of Macromolecules by Ultracentrifugation and Electrophoresis
In the 1920s, Svedberg (Department of Physical Chemistry, Uppsala) devised his ultracentrifuge for protein separation. His pupil, Arne Tiselius, later developed the first separation technique for proteins in an electrical field: electrophoresis. Tiselius published his method of free electrophoresis in a PhD thesis in 1940. Jan Waldenström (at that time in Uppsala and later chairman of the Department of Medicine in Malmö) together with the physical chemist Kai Pedersen (Uppsala) realized the
CONCLUSIONS
Today, α1AT deficiency has been known for almost exactly 25 years. I have had the privilege of contributing to the knowledge of its main clinical manifestations. This has been rewarding since this inborn error has served as a model disease in several respects. Progress has been rapid, and recently the feasibility of replacement therapy has been documented.24 Synthetic elastase inhibitors will probably be used in clinical trials in the near future. Nonetheless, the natural history of the disease
References (0)
Cited by (32)
Elastin in lung development and disease pathogenesis
2018, Matrix BiologyCitation Excerpt :These differences suggest that disruption of elastin expression in regions other than the alveoli contribute to the pulmonary phenotype when elastin production is ablated in the embryo [137]. The discovery of an association between emphysema and α1- antitrypsin deficiency [138], in concert with the use of animal models that develop emphysema after intrapulmonary instillation of elastolytic enzymes [139, 140], lead to the recognition that destruction of elastin is central to disease pathogenesis (i.e., the elastase: anti-elastase hypothesis) [141]. The best-known source of proteases in the lung is inflammatory cells recruited to the airspaces by stimulators of inflammation, such as cigarette smoke (reviewed in [141, 142]).
Alpha-1 antitrypsin deficiency 50 years later
2014, Bulletin de l'Academie Nationale de MedecinePathophysiology and classification of emphysema
2003, Chest Surgery Clinics of North Americaα<inf>1</inf>-Antitrypsin deficiency in Europe: Geographical distribution of Pi types S and Z
1998, Respiratory Medicine
Supported by grants from the Swedish Association Against Heart and Lung Diseases. (Chest 1989; 95:181-89)