Sase M, Kobayashi K, Imamura Y, Saheki T, Nakano K, Miura S, Mori M
Hum Genet. 1985;69(2):130-4. doi: 10.1007/BF00293282.
The translation activity of mRNA coding for argininosuccinate synthetase in total RNA extracted from the liver of three patients with quantitative-type citrullinemia was determined using a cell-free translation system. In two patients, the hepatic content of the enzyme was about 20% of the control value, whereas translatable mRNA level for the enzyme was similar to or slightly lower than those of control livers. In the third patient, the enzyme content was about 50% of the control value, and mRNA activity for the enzyme was low normal. These results indicate that at least in the first two patients, the decrease in the enzyme protein is due either to increased degradation of the enzyme or to decreased translation in the patient's liver.
使用无细胞翻译系统测定了从三名定量型瓜氨酸血症患者肝脏中提取的总RNA中编码精氨琥珀酸合成酶的mRNA的翻译活性。在两名患者中，该酶的肝脏含量约为对照值的20%，而该酶的可翻译mRNA水平与对照肝脏相似或略低于对照肝脏。在第三名患者中，该酶含量约为对照值的50%，该酶的mRNA活性为正常低水平。这些结果表明，至少在前两名患者中，酶蛋白的减少要么是由于酶降解增加，要么是由于患者肝脏中翻译减少。
