What are serpinopathies?
Serpinopathies are a group of hereditary diseases involving the genes that encode one of several serine protease inhibitors, also known as serpins. The largest family of protein inhibitors, serpins include – among others – α1-antitrypsin, α1-antichymotrypsin, C1 inhibitor, and antithrombin.
The best-known serpinopathy is α1-antitrypsin (AAT) deficiency, which is caused by mutations in the SERPINA1 gene. It has a prevalence of 1 in 2,500.
Abnormal AAT produced by the mutated gene is misfolded and retained in the rough endoplasmic reticulum of liver cells in form of microscopic cytoplasmic globules. Such conformational changes of abnormal proteins are common to all serpinopathies, which are therefore also known as protein conformational disorders, protein misfolding diseases, or simply proteinopathies.
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