Kanwar Y S, Krakower C A, Manaligod J R, Justice P, Wong P W
Biomedicine. 1975 May;22(3):209-16.
Hyperprolinemia, hyperprolinuria and hydroxyprolinuria were observed in PRO/Re mice. Hepatic proline oxidase activity in PRO/Re mice was markedly deficient. It was demonstrated that the deficiency of proline oxidase activity was not due to the presence of an inhibitor. The mutant enzyme in PRO/Re showed no difference in heat stability but had a poor affinity for the substrate, L-proline as compared to normal enzymes. There was no significant proteinuria or hematuria in PRO/Re mice. Their serum protein and blood urea nitrogen were normal. Morphologic studies by light and electron microscopy demonstrated no abnormality in the renal tissues of PRO/Re up to 6 months of age, suggesting that hyperprolinemia did not cause renal damage. Pedigree studies showed that F1 generation (PRO/Re x CD 1) had approximately 50 percent of normal proline oxidase activity and significantly higher plasma proline. The distribution of hepatic proline oxidase activity in F2 GENERATION (F1 x F1) was characteristic of an autosomal recessive trait.
在PRO/Re小鼠中观察到高脯氨酸血症、高脯氨酸尿症和羟脯氨酸尿症。PRO/Re小鼠的肝脏脯氨酸氧化酶活性明显不足。已证明脯氨酸氧化酶活性的缺乏并非由于存在抑制剂。与正常酶相比，PRO/Re中的突变酶在热稳定性上没有差异，但对底物L-脯氨酸的亲和力较差。PRO/Re小鼠没有明显的蛋白尿或血尿。它们的血清蛋白和血尿素氮正常。光镜和电镜的形态学研究表明，6个月大的PRO/Re小鼠肾组织没有异常，这表明高脯氨酸血症不会导致肾损伤。系谱研究表明，F1代（PRO/Re×CD1）具有约50%的正常脯氨酸氧化酶活性，血浆脯氨酸显著更高。F2代（F1×F1）肝脏脯氨酸氧化酶活性的分布具有常染色体隐性性状的特征。
