Molecular and clinical heterogeneity in pyruvate kinase deficiency in India

Blood Cells, Molecules, and Diseases

Volumn 51, Issue 3, 2013, Pages 133-137

  Warang, Prashant ^a   Kedar, Prabhakar ^a   Ghosh, Kanjaksha ^a   Colah, Roshan ^a  

^a NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

Author keywords

Glycolytic enzymes; Hemolytic anemia; Molecular modeling; Pyruvate kinase; Red cell enzymes

Indexed keywords

ADENINE; AMINO ACID; ARGININE; ASPARAGINE; ASPARTIC ACID; GLUTAMINE; GLYCINE; GUANINE; LEUCINE; LYSINE; MEPYRAMINE MALEATE; PROLINE; PYRUVATE KINASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA FLANKING REGION; DNA SEQUENCE; ENZYME DEFICIENCY; ERYTHROCYTE PYRUVATE KINASE DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HEMOLYSIS; HEREDITARY HEMOLYTIC ANEMIA; HOMOZYGOSITY; HUMAN; INDIA; INFANT; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

GLYCOLYTIC ENZYMES; HEMOLYTIC ANEMIA; MOLECULAR MODELING; PYRUVATE KINASE; RED CELL ENZYMES;

ADOLESCENT; ALLELES; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; CHILD; CHILD, PRESCHOOL; ERYTHROCYTES; FEMALE; GENOTYPE; HUMANS; INDIA; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS; YOUNG ADULT;

EID: 84881031013     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.05.006     Document Type: Article

References (25)

1. Mentzer W.C., Glader B.E. Disorders of erythrocyte metabolism. The Hereditary Hemolytic Anemias 1989, 267-381. Churchill Livingstone, New York, USA. W.C. Mentzer, G.M. Wagner (Eds.).
2. Zanella A., Bianchi P., Fermo E. Pyruvate kinase deficiency. Haematologica 2007, 92:721-723.
3. Zanella A., Bianchi P. Red cell pyruvate kinase deficiency: from genetics to clinical manifestations. Baillieres Best Pract. Res. Clin. Haematol. 2000, 13:57-81.
4. Jurica M.S., Mesecar A., Heath P.J., Shi W., Nowak T., Stoddard B.L. The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate. Structure 1998, 6:195-210.
5. Kanno H., Fujii H., Hirono A., Miwa S. cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384-Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. Proc. Natl. Acad. Sci. U. S. A. 1991, 88:8218-8221.
6. Kanno H., Fujii H., Miwa S. Structural analysis of human pyruvate kinase L gene and identification of the promoter activity in erythroid cells. Biochem. Biophys. Res. Commun. 1992, 188(1992):516-523.
7. Noguchi T., Yamada K., Inoue H., Matsuda T., Tanaka T. The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters. J. Biol. Chem. 1987, 262:14366-14371.
8. Noguchi T., Inoue H., Tanaka T. The M1- and M2 -type isozymes of rat pyruvate kinase are produced from the same gene by alternative RNA splicing. J. Biol. Chem. 1986, 261:13807-13812.
9. Zanella A., Fermo E., Bianchi P., Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br. J. Haematol. 2005, 130:11-25.
10. Pissard S., Max-Audit I., Skopinski L., Vasson A., Vivien P., Bimet C., Goossens M., Galacteros F., Wajcman H. Pyruvate kinase deficiency in France: a 3year study reveals 27 new mutations. Br. J. Haematol. 2006, 133:683-689.
11. Zanella A., Fermo E., Bianchi P., Chiarelli L.R., Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007, 21:217-231.
12. Beutler E. Red Cell Metabolism: A Manual of Biochemical Methods 1984, Grune & Stratton, Orlando, FL, (188 pp.). 3rd edition.
13. Zanella A., Bianchi P., Baronciani L., Zappa M., Bredi E., Vercellati C., Alfinito F., Pelissero G., Sirchia G. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood 1997, 89:3847-3852.
14. Valentini G., Chiarelli L.R., Fortin R., Dolzan M., Galizzi A., Abraham D.J., Wang C., Bianchi P., Zanella A., Mattevi A. Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. J. Biol. Chem. 2002, 277:23807-23814.
15. van Wijk R., Huizinga E.G., van Wesel A.C., van Oirschot B.A., Hadders M.A., van Solinge W. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. Hum. Mutat. 2009, 30:446-453.
16. Kedar P., Hamada T., Warang P., Nadkarni A., Shimizu K., Fujji H., Ghosh K., Kanno H., Colah R. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. Clin. Genet. 2009, 75:157-162.
17. Gupta N., Bianchi P., Fermo E., Kabra M., Warang P., Kedar P., Gupta N., Colah R. Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family. Prenat. Diagn. 2007, 27:117-118.
18. Demina A., Varughese K.I., Barbot J., Forman L., Beutler E. Six previously undescribed pyruvate kinase mutations causing enzyme deficiency. Blood 1998, 92:647-652.
19. Kanno H., Ballas S.K., Miwa S., Fujii H., Bowman H.S. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood 1994, 83:2311-2316.
20. Kedar P.S., Nampoothiri S., Sreedhar S., Ghosh K., Shimizu K., Kanno H., Colah R.B. First trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the PK-Amish mutation. Genet. Mol. Res. 2007, 6:370-375.
21. Zarza R., Alvarez R., Pujades A., Nomdedeu B., Carrera A., Estella J. Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Br. J. Haematol. 1998, 103:377-382.
22. Manco L., Ribeiro M.L., Almeida H., Freitas O., Abade A., Tamagnini G. PK-LR gene mutations in pyruvate kinase deficient Portuguese patients. Br. J. Haematol. 1999, 105:591-595.
23. Lenzner C., Nurnberg P., Jacobasch G., Gerth C., Thiele B.J. Molecular analysis of 29 pyruvate kinase-deficient patients from Central Europe with hereditary hemolytic anemia. Blood 1997, 89:1793-1799.
24. Beutler E., Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 2000, 95:3585-3588.
25. Zanella A., Bianchi P., Fermo E., Iurlo A., Zappa M., Vercellati C., Boschetti C., Baronciani L., Cotton F. Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients. Br. J. Haematol. 2001, 13:43-48.