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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1976 Sep;28(5):474–481.

A new pyruvate kinase variant (PK Osaka) demonstrated by partial purification and condensation.

K Shinohara, S Miwa, K Nakashima, E Oda, T Kageoka
PMCID: PMC1685104  PMID: 984043

Abstract

A qualitative variant of erythrocyte and liver pyruvate kinases (PK Osaka) was detected in a family in which two siblings have extremely low PK activity by semipurification with DEAE cellulose chromatography and subsequent concentration of the enzyme solutions. This was previously reported to be a quantitative variant based on studies of crude tissue preparations. The molecular aberrations were characterized by slow mobility upon electrophoresis, abnormal kinetics for phosphoenolpyruvate, and low affinity for anti-human erythrocyte PK serum. The mutant PK L was similar both electrophoretically and immunologically to PK R.

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Selected References

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  1. Bigley R. H., Stenzel P., Jones R. T., Campos J. O., Koler R. D. Tissue distribution of human pyruvate kinase isozymes. Enzymol Biol Clin (Basel) 1968;9(1):10–20. doi: 10.1159/000458230. [DOI] [PubMed] [Google Scholar]
  2. Blume K. G., Arnold H., Lohr G. W., Beutler E. Additional diagnostic procedures for the detection of abnormal red cell pyruvate kinase. Clin Chim Acta. 1973 Feb 12;43(3):443–446. doi: 10.1016/0009-8981(73)90487-7. [DOI] [PubMed] [Google Scholar]
  3. Boivin P., Galand C. A mutant of human red cell pyruvate kinase with high affinity for phosphoenolpyruvate. Enzyme. 1974;18(1):37–47. doi: 10.1159/000459412. [DOI] [PubMed] [Google Scholar]
  4. Brandt N. J., Hanel H. K. Atypical pyruvate kinase in a patient with haemolytic anaemia. Scand J Haematol. 1971;8(2):126–133. doi: 10.1111/j.1600-0609.1971.tb01963.x. [DOI] [PubMed] [Google Scholar]
  5. Imamura K., Tanaka T. Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. I. Electrophoretic studies. J Biochem. 1972 Jun;71(6):1043–1051. doi: 10.1093/oxfordjournals.jbchem.a129852. [DOI] [PubMed] [Google Scholar]
  6. Imamura K., Tanaka T., Nishina T., Nakashima K., Miwa S. Studies on pyruvate kinase (PK) deficiency. II. Electrophoretic, kinetic and immunological studies on pyruvate kinase of erythrocytes and other tissues. J Biochem. 1973 Dec;74(6):1165–1175. doi: 10.1093/oxfordjournals.jbchem.a130344. [DOI] [PubMed] [Google Scholar]
  7. KOLER R. D., BIGLEY R. H., JONES R. T., RIGAS D. A., VANBELLINGHEN P., THOMPSON P. PYRUVATE KINASE: MOLECULAR DIFFERENCES BETWEEN HUMAN RED CELL AND LEUKOCYTE ENZYME. Cold Spring Harb Symp Quant Biol. 1964;29:212–221. [PubMed] [Google Scholar]
  8. Löhr G. W., Blume K. G., Rüdiger H. W., Sokal G., Gulbis E. A new type of pyruvate-kinase deficiency of human erythrocytes. Lancet. 1968 Apr 6;1(7545):753–753. doi: 10.1016/s0140-6736(68)92201-0. [DOI] [PubMed] [Google Scholar]
  9. Miwa S., Nakashima K., Ariyoshi K., Shinohara K., Oda E. Four new pyruvate kinase (PK) variants and a classical PK deficiency. Br J Haematol. 1975 Jan;29(1):157–169. doi: 10.1111/j.1365-2141.1975.tb01809.x. [DOI] [PubMed] [Google Scholar]
  10. Miwa S., Nishina T. Studies on pyruvate kinase (PK) deficiency. I. Clinical, hematological and erythrocyte enzyme studies. Nihon Ketsueki Gakkai Zasshi. 1974 Feb;37(1):1–16. [PubMed] [Google Scholar]
  11. Nakashima K., Miwa S., Oda S., Tanaka T., Imamura K. Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinases. Blood. 1974 Apr;43(4):537–548. [PubMed] [Google Scholar]
  12. Oski F. A., Bowman H. A low Km phosphoenolpyruvate mutant in the Amish with red cell pyruvate kinase deficiency. Br J Haematol. 1969 Sep;17(3):289–297. doi: 10.1111/j.1365-2141.1969.tb01375.x. [DOI] [PubMed] [Google Scholar]
  13. Paglia D. E., Valentine W. N., Baughan M. A., Miller D. R., Reed C. F., McIntyre O. R. An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis. J Clin Invest. 1968 Aug;47(8):1929–1946. doi: 10.1172/JCI105883. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Staal G. E., Koster J. F., Kamp H., van Milligen-Boersma L., Veeger C. Human erythrocyte pyruvate kinase. Its purification and some properties. Biochim Biophys Acta. 1971 Jan 13;227(1):86–96. doi: 10.1016/0005-2744(71)90170-7. [DOI] [PubMed] [Google Scholar]
  15. Staal G. E., Koster J. F., van Milligen-Boersma L. Some properties of abnormal red blood cell pyruvate kinase. Biochim Biophys Acta. 1970 Dec 16;220(3):613–616. doi: 10.1016/0005-2744(70)90293-7. [DOI] [PubMed] [Google Scholar]
  16. Staal G. J., Koster J. F., Nijessen J. G. A new variant of red blood cell pyruvate kinase deficiency. Biochim Biophys Acta. 1972 Feb 28;258(2):685–687. doi: 10.1016/0005-2744(72)90262-8. [DOI] [PubMed] [Google Scholar]
  17. Tanaka K. R., Paglia D. E. Pyruvate kinase deficiency. Semin Hematol. 1971 Oct;8(4):367–396. [PubMed] [Google Scholar]
  18. Tanaka T., Harano Y., Sue F., Morimura H. Crystallization, characterization and metabolic regulation of two types of pyruvate kinase isolated from rat tissues. J Biochem. 1967 Jul;62(1):71–91. doi: 10.1093/oxfordjournals.jbchem.a128639. [DOI] [PubMed] [Google Scholar]
  19. VALENTINE W. N., TANAKA K. R., MIWA S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Physicians. 1961;74:100–110. [PubMed] [Google Scholar]
  20. VON FELLENBERG, RICHTERICH R., AEBI H. ELEKTROPHORETISCH VERSCHIEDEN WANDERNDE PYRUVAT-KINASEN AUS EINIGEN ORGANEN DER RATTE. Enzymol Biol Clin (Basel) 1963;74:240–250. [PubMed] [Google Scholar]
  21. Wiesmann U., Tönz O. Investigations of the kinetics of red cell pyruvate kinase in normal individuals and in a patient with pyruvate kinase deficiency. Nature. 1966 Feb 5;209(5023):612–613. doi: 10.1038/209612a0. [DOI] [PubMed] [Google Scholar]

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