Thematic series “Alpha-1 antitrypsin deficiency” - Article in English and FrenchCoordinated by J.-F. Mornex and A. CuvelierMolecular pathogenesis of alpha-1-antitrypsin deficiencyBases moléculaires du déficit en alpha-1 antitrypsine
Section snippets
English version
Alpha-1 antitrypsin (α1-AT) is synthesized by the liver and is present in the plasma at a concentration of 1.5–3.5 g/L. It functions primarily as an inhibitor of the enzyme neutrophil elastase. Most individuals are homozygous for the M allele with the commonest deficiency alleles being the severe Z (Glu342Lys) and the mild S (Glu264Val) variants. The Z mutation causes α1-AT to be degraded by endoplasmic reticulum-associated degradation (ERAD) or retained within hepatocytes as polymers that form
Version française
L’alpha-1 antitrypsine (α1-AT) est synthétisée par le foie et ses concentrations plasmatiques varient de 1,5 à 3,5 g/L. Sa principale fonction est d’inhiber l’élastase produite par les neutrophiles. La plupart des individus sont homozygotes pour l’allèle sauvage M, les allèles les plus fréquents entraînant un déficit sévère ou léger en α1-AT étant respectivement l’allèle Z (Glu342Lys) et l’allèle S (Glu264Val). La mutation Z entraîne une dégradation de l’α1-AT par la machinerie de dégradation
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