While some mutations in SERPINA1 completely abolish the gene message meaning no protein, others like the most common mutation, called Pi*Z, results in a misfolded alpha-1 antitrypsin protein being made. 两种突变:一种是导致蛋白不能产生,另一个是导致蛋白的错误折叠。 Misfolded alpha-1 antitrypsin ca...
called SERPINA1, which stands forserpin peptidase inhibitor(丝氨酸蛋白酶抑制剂), clade A, member 1.While some mutations in SERPINA1 completely abolish the genemessage meaning no protein,others like the most common mutation, called Pi*Z, results in a misfolded alpha-1 antitrypsinprotein being made....
In the patients with results available, serum AAT levels were below the treatable range in the case of SZ and ZZ mutations (see Fig. 1). Fig. 1 Alpha-1 antitrypsin levels in patients with mutation Full size imageDiscussion Having previously been regarded as rare, AATD is now considered to...