In vitro synthesis of M and Z forms of human alpha 1-antitrypsin.
mRNA was prepared from autopsy liver samples from a homozygote for alpha 1-antitrypsin deficiency (PiZZ) and from a normal (PiMM) subject. Both preparations gave equivalent synthesis of alpha 1-antitrypsin in a wheat germ cell-free system. This suggests that the deficiency of plasma alpha 1-antitrypsin associated with the Z variant is due to a failure of processing and secretion of the protein rather than of its synthesis. It is likely that it is the resultant intracellular accumulation of the Z protein rather than a deficiency of protease inhibitor that is the primary cause of the liver pathology associated with this variant.
D000293:Adolescent; D002474:Cell-Free System; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D008099:Liver; D008297:Male; D008875:Middle Aged; D014176:Protein Biosynthesis; D011487:Protein Conformation; D011499:Protein Processing, Post-Translational; D012333:RNA, Messenger / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis / Q000378:metabolism*
D012333:RNA, Messenger; D000515:alpha 1-Antitrypsin