Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type i collagen

Journal of Bone and Mineral Research

Volumn 27, Issue 3, 2012, Pages 723-728

  Venturi, Giacomo ^a   Gandini, Alberto ^a   Monti, Elena ^a   Carbonare, Luca Dalle ^b   Corradi, Massimiliano ^a   Vincenzi, Monica ^a   Valenti, Maria Teresa ^b   Valli, Maurizia ^c   Pelilli, Enrico ^d   Boner, Attilio ^a   Mottes, Monica ^a   Antoniazzi, Franco ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

BONE HISTOMORPHOMETRY; OSTEOGENESIS IMPERFECTA; PEDF; TYPE I COLLAGEN

Indexed keywords

ALPHA TUBULIN; COLLAGEN TYPE 1; COLLAGEN TYPE 1A1; COLLAGEN TYPE 1A2; PIGMENT EPITHELIUM DERIVED FACTOR; UNCLASSIFIED DRUG;

ARTICLE; BONE DEFORMATION; BONE MASS; BONE RADIOGRAPHY; BONE REMODELING; BONE STRENGTH; CASE REPORT; CHILD; COLLAGEN SYNTHESIS; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; DISEASE PREDISPOSITION; DISEASE SEVERITY; EUROPE; EXON; FEMALE; FRACTURE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC TRANSCRIPTION; HISTOLOGY; HUMAN; HUMAN CELL; LONG BONE; MORPHOMETRICS; MUTANT; NORTH AMERICA; OSTEOGENESIS IMPERFECTA; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN SECRETION; RNA TRANSLATION; SERPINF1 GENE; SIBLING;

CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; DISEASE PROGRESSION; EYE PROTEINS; FEMALE; HUMANS; MALE; NERVE GROWTH FACTORS; OSTEOGENESIS IMPERFECTA; PEDIGREE; SERPINS;

EID: 84857342359     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1480     Document Type: Article

References (19)

1. Sillence DO, Senn A, Danks DM., Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16: 101-16.
2. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B., CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006; 127: 291-304.
3. Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makaareva E, Kuznestova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC., Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007; 39: 359-65.
4. Van Dijk FS, Nesbitt IM, Zwikstra EJ, Nikkels PG, Piersman SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pais G., PPIB mutations cause severe recessive osteogenesis imperfecta. Am J Hum Genet. 2009; 85: 521-7.
5. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merril AE, Davis EC, Cohn DH, Akarsu N, Krakow D., Mutations in the gene encoding the RER protein FKBP65 cause autosomal recessive osteogenesis imperfecta. Am J Hum Genet. 2010; 86: 551-9.
6. Christiansen HE, Schwarze U, Pyott SM, Al Swaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH., Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 2010; 86: 389-98.
7. Lapunzina P, Aglan M, Temtamy S, Caparrõs-Martin JA, Valencia M, Letõn R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL., Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010; 87: 110-4.
8. Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R., Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002; 17: 30-8.
9. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrabach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C., Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal recessive osteogenesis imperfecta. Am J Hum Genet. 2011; 88: 362-71.
10. Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B., Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011; 26: 2798-803.
11. Glorieux FH, Travers R, Taylor A, Bowen JR, Rauch F, Norman M, Parfitt AM., Normative data for iliac bone histomorphometry in growing children. Bone. 2000; 26: 103-9.
12. Quan GMY, Ojaimi J, Li Y, Kartsogiannis V, Zhou H, Choong PFM., Localization of pigment epithelium-derived factor in growing mouse bone. Calcif Tissue Int. 2005; 76: 146-53.
13. Broadhead ML, Akiyama T, Choong PFM, Dass CR., The pathophysiological role of PEDF in bone diseases. Curr Mol Med. 2010; 10: 267-78.
14. Meyer C, Notari L, Becerra SP., Mapping the type I collagen-binding site on pigment epithelium-derived factor. J Biol Chem. 2002; 277: 45400-7.
15. Akiyama T, Dass CR, Shinoda Y, Kavano H, Tanaka S, Choong PFM., PEDF regulates osteoclasts via osteoprotegerin and RANKL. Biochem Biophys Res Commun. 2010; 391: 789-94.
16. Takenaka K, Yamagishi S, Jinnouchi Y, Nakamura K, Imaizumi T., Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. Life Sci. 2005; 77: 3231-41.
17. Kawaguchi T, Yamagishi SI, Sata M., Structure-function relationship of PEDF. Curr Mol Med. 2010; 10: 302-11.
18. Land C, Rauch F, Travers R, Glorieux FH., Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment. Bone. 2007; 40: 638-44.
19. Manalo KB, Choong PF, Becerra SP, Dass CR., Pigment epithelium-derived factor as an anticancer drug and new treatment methods following the discovery of its receptors: a patent perspective. Expert Opin Ther Pat. 2011; 21: 121-30.