Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts

Annals of Clinical Biochemistry

Volumn 42, Issue 1, 2005, Pages 80-84

  Galicka, Anna ^a   Surazyński, Arkadiusz ^a   Wołczyński, Sławomir ^a   Pałka, Jerzy ^a   Popko, Janusz ^a   Gindzieński, Andrzej ^a  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

BETA1 INTEGRIN; COLLAGEN; INTEGRIN RECEPTOR; PROLINE DIPEPTIDASE; SOMATOMEDIN C RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; COLLAGEN METABOLISM; COLLAGEN SYNTHESIS; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FATHER; FEMALE; HUMAN; HUMAN CELL; MALE; METABOLIC REGULATION; OSTEOGENESIS IMPERFECTA; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKIN FIBROBLAST;

ADOLESCENT; CELLS, CULTURED; COLLAGEN; DIPEPTIDASES; FEMALE; FIBROBLASTS; HUMANS; MALE; MIDDLE AGED; OSTEOGENESIS IMPERFECTA; PHENOTYPE; SKIN;

EID: 13444283366     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1258/0004563053026871     Document Type: Article

References (29)

1. Cole WG. The molecular pathology of osteogenesis imperfecta. Clin Orthop 1997; 343: 235-48
2. Bateman JF, Chan D, Mascara T, Rogers JG, Cole WG. Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem J 1986; 240: 699-708
3. Byers PH. Disorders of collagen biosynthesis and structure In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989; 2805-42
4. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-16
5. Prockop DJ. Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 1992; 326: 540-6
6. Dalgleish R. The human type I collagen database. Nucleic Acids Res 1997; 25: 181-7
7. Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994; 55: 638-47
8. Lund AM, Hansen M, Kollerup G, Juul A, Teisner B, Skovby F. Collagen-derived markers of bone metabolism in osteogenesis imperfecta. Acta Paediatr 1998; 87: 1131-7
9. Jackson SH, Dennis AN, Greenberg M. Iminopeptiduria. A genetic defect in recycling collagen; a method for determining prolidase in red blood cells. Can Med Assoc J 1975; 113: 759-63
10. Phang JM, Scriver CR. Disorders of proline and hydroxyproline metabolism In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1989; 577-97
11. Myara I, Charpentier C, Lemmonier A. Minireview: prolidase and prolidase deficiency. Life Sci 1984; 334: 1985-98
12. Pałka JA, Phang J. Prolidase activity in fibroblasts is regulated by interaction of extracellular matrix with cell surface integrin receptors. J Cell Biochem 1997; 67: 166-75
13. Peterkofsky B, Palka J, Wilson S, Takeda K, Shah V. Elevated activity of low molecular weight insulin-like growth factor-binding proteins in sera of vitamin C-deficient and fasted guinea pigs. Endocrinology 1991; 128: 1769-79
14. Miltyk W, Karna E, Wolczynski S, Palka J. Insulin-like growth factor-I-dependent regulation of prolidase activity in cultured human skin fibroblasts. Mol Cell Biochem 1998; 189: 177-84
15. Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 1985; 260: 1734-42
16. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680-5
17. Oyamada I, Palka J, Schalk EM, Takeda K, Peterkofsky B. Scorbutic and fasted guinea pig sera contain an insulin-like growth factor-I reversible inhibitor of proteoglycan and collagen synthesis in chick embryo chondrocytes and adult human skin fibroblasts. Arch Biochem Biophys 1990; 276: 85-93
18. Peterkofsky B, Chojkier M, Bateman J. Determination of collagen synthesis in tissue and cell culture system In: Furthmay M, ed. Immunochemistry of the Extracellular Matrix, Boca Raton, FL: CRC Press, 1982; 19-47
19. Myara I, Charpentier C, Lemonnier A. Optimal conditions for prolidase assay by proline colorimetric determination: application to imidodipeptiduria. Clin Chim Acta 1982; 125: 193-205
20. Chinard FP. Photometric estimation of proline and ornithine. J Biol Chem 1952; 199: 91-5
21. Lowry OH, Rosenbergh NI, Farr AL, Randall IR. Protein measurement with the Folin reagent. J Biol Chem 1951; 193: 265-75
22. Sykes B, Francis MJO, Smith R. Altered relation of two collagen types in osteogenesis imperfecta. N Engl J Med 1977; 296: 1200-3
23. Zhuang J, Tromp G, Kuivaniemi H, Castells S, Prockop DJ. Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. Am J Med Gene 1996; 61: 111-6
24. Zolezzi F, Valli M, Clementi M, et al. Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability. Am J Hum Genet 1997; 71: 366-70
25. Emmerson KS, Phang JM. Hydrolysis of proline dipeptides completely fulfills the proline requirement in a proline-auxotropic Chinese hamster ovary cell line. J Nutr 1993; 123: 909-14
26. Galicka A, Wolczynski S, Anchim T, Surazynski A, Lesniewicz R, Palka J. Defects of type I procollagen metabolism correlated with decrease of prolidase activity in a case of lethal osteogenesis imperfecta. Eur J Biochem 2001; 268: 2172-8
27. Palka J, Miltyk W, Karna E, Wolczynski S. Modulation of prolidase activity during in vitro aging of human skin fibroblasts the role of extracellular matrix collagen. Tokai J Exp Clin Med 1996; 21: 207-13
28. Takeda K, Gosiewska A, Peterkofsky B. Similar, but not identical modulation of expression of extracellular matrix components during in vitro and in vivo aging of human skin fibroblasts. J Cell Physiol 1992; 153: 450-9
29. Shuster S, Black MM, McVitie E. The influence of age and sex on skin thickness, skin collagen and density. Br J Dermatol 1975; 93: 639-43