Biochemical, morphological and hybrid studies in hyperprolinemic mice.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000594:Amino Acid Oxidoreductases / Q000037:antagonists & inhibitors / Q000172:deficiency* / Q000378:metabolism; D000818:Animals; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005808:Genes, Recessive; D005998:Glycine / Q000652:urine; D006801:Humans; D006824:Hybridization, Genetic; D006863:Hydrogen-Ion Concentration; D006909:Hydroxyproline / Q000652:urine; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000201:enzymology; D051379:Mice; D008815:Mice, Inbred Strains; D008930:Mitochondria, Liver / Q000201:enzymology; D010375:Pedigree; D011392:Proline / Q000097:blood / Q000378:metabolism* / Q000652:urine
D011392:Proline; D000594:Amino Acid Oxidoreductases; D006909:Hydroxyproline; D005998:Glycine