Perlmutter D H, Kay R M, Cole F S, Rossing T H, Van Thiel D, Colten H R
Proc Natl Acad Sci U S A. 1985 Oct;82(20):6918-21. doi: 10.1073/pnas.82.20.6918.
To determine the basis for low serum concentrations of alpha 1-proteinase inhibitor (alpha 1PI) in individuals with homozygous alpha 1PI deficiency (hereafter referred to as PiZZ), biosynthesis and secretion of alpha 1PI were studied in Xenopus oocytes microinjected with hepatic mRNA and in blood monocytes (an extrahepatic site of alpha 1PI gene expression). Although both the usual alpha 1PI (hereafter referred to as PiMM) and PiZZ alpha 1PI were secreted in functionally active form, the rate of secretion of alpha 1PI was significantly and selectively decreased in Xenopus oocytes injected with PiZZ liver mRNA and in monocytes from PiZZ individuals. The apparent size of alpha 1PI in the intracellular compartment of Xenopus oocytes injected with PiZZ liver mRNA was different from the corresponding intracellular PiMM alpha 1PI in oocytes injected with PiMM liver mRNA. There were also differences in the relative ratio of native and complexed alpha 1PI secreted by monocytes from individuals with PiMM and PiZZ phenotypes.
为确定纯合子α1 - 抗胰蛋白酶缺乏症（以下简称PiZZ）个体血清中α1 - 抗胰蛋白酶（α1PI）浓度较低的原因，研究人员对注射了肝脏mRNA的非洲爪蟾卵母细胞以及血液单核细胞（α1PI基因表达的肝外位点）中的α1PI生物合成和分泌情况进行了研究。尽管正常的α1PI（以下简称PiMM）和PiZZα1PI均以功能活性形式分泌，但在注射了PiZZ肝脏mRNA的非洲爪蟾卵母细胞以及PiZZ个体的单核细胞中，α1PI的分泌速率显著且选择性降低。注射了PiZZ肝脏mRNA的非洲爪蟾卵母细胞细胞内区室中α1PI的表观大小，与注射了PiMM肝脏mRNA的卵母细胞中相应的细胞内PiMMα1PI不同。PiMM和PiZZ表型个体的单核细胞分泌的天然和复合α1PI的相对比例也存在差异。
