Alpha-1 antitrypsin deficiency (Alpha-1) was discovered in 1963 by the Swedish physician/chemist C.B. Laurell, who noticed a link between people with low levels of the protein alpha-1 antitrypsin (AAT) and chronic lung disease. This was followed further clinically with S. Eriksson.
In the late 1960s and early 1970s many different alleles (variants) of AAT were identified on the basis of their electrical charge. It then became possible to identify genetic types of AAT by how rapidly or slowly the protein molecules moved in a gel (PI typing), developed by M. K. Fagerhol in Norway.
In 1969, Alpha-1 was identified by H. Sharp as a cause of liver failure in newborn infants and, in 1982, the Alpha-1 gene was located on chromosome 14. Two years later, the human AAT gene was cloned and the genetic basis of AAT defined. In 1987, augmentation therapy, through the intravenous injection of purified human AAT, began to be used in patients with Alpha-1 lung disease to raise AAT levels and hopefully protect the lungs against neutrophil elastase.
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