Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene

Saudi Medical Journal

Volumn 26, Issue 1, 2005, Pages 24-30

  Al Aqeel, Aida I ^a  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; FIBRONECTIN; GELATINASE A; GUANINE; HISTIDINE; THYMINE; TYROSINE;

AL AQEEL SEWAIRI SYNDROME; AMINO ACID SUBSTITUTION; ANKYLOSIS; ARTHROPATHY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; BONE GROWTH; CHROMOSOME 16Q; CLINICAL ARTICLE; CODON; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ENZYME DEFECT; ENZYME DEFICIENCY; EXON; EXOPHTHALMOS; FACE DYSMORPHIA; FIBROBLAST; FOOT SOLE; HAND PALM; HAPLOTYPE; HIRSUTISM; HUMAN; INTERPHALANGEAL JOINT; JOINT LIMITATION; METACARPOPHALANGEAL JOINT; METATARSOPHALANGEAL JOINT; MICROGNATHIA; MICROSATELLITE MARKER; MISSENSE MUTATION; MOUSE; NONHUMAN; NONSENSE MUTATION; NOSE MALFORMATION; NUCLEIC ACID BASE SUBSTITUTION; OSTEOLYSIS; OSTEOPENIA; SAUDI ARABIA; STOP CODON; SUBCUTANEOUS NODULE;

CHILD, PRESCHOOL; GENES, RECESSIVE; HAJDU-CHENEY SYNDROME; HUMANS; JOINT DISEASES; MATRIX METALLOPROTEINASE 2; SAUDI ARABIA; SYNDROME;

EID: 14944376955     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. Urlus M, Roosen P, Lammens J, Victor J, De Smet L, Molenaers G, et al. Carpotarsal osteolysis. Case report and review of the literature. Genet Couns 1993; 4: 25-36.
2. Lachman RS. International nomenclature and classification of the osteochondrodysplasias. Pediatr Radiol 1997; 28: 737-744.
3. Vu Thiennu H. Don't mess with the matrix. Nat Gen 2001; 28: 202-203.
4. Yu AE, Murphy AN, Stetler-Stevenson WG. In: Matrix Metalloproteinases. Academic Press, San Diego Parks (CA): WC and Mecham; 1999. p. 85-113.
5. Agnihortri R, Crawford HC, Haro H, Matrisian LM, Havrda MC, Liaw L. Osteopontin, a novel substrate for matrix metalloproteinase-3 (stromelysin-1) and matrix metalloproteinase-7 (matrilysin). J Biol Chem 2001; 276: 28261-28267.
6. McCawley LJ, Matrisian LM. Matrix metalloproteinases: they're not just for matrix anymore! Curr Opin Cell Biol 2001; 13: 534-540.
7. Creemers LB, Jansen ID, Docherty AJ, Reynolds JJ, Beertsen W, Everts V. Gelatinase A (MMP-2) and cysteine proteinases are essential for the degradation of collagen in soft connective tissue. Matrix Biol 1998; 17: 35-46.
8. Chen WT. Proteases associated with invadopodia, and their role in degradation of extracellular matrix. Enzyme Protein 1996; 49: 59-71.
9. Brinckerhoff CE. Joint destruction in arthritis: metalloproteinases in the spotlight. Arthritis Rheum 1991; 34: 1073-1075.
10. Glegg PD, Carter SD. Matrix metalloproteinase-2 and -9 are activated in joint diseases. Equine Vet J 1999; 31: 324-330.
11. Stetler-Stevenson WG. The role of matrix metalloproteinases in tumor invasion, metastasis and angiogenesis. Surg Oncol Clin N Am 2001; 10: 383-392.
12. Sang QX. Complex role of matrix metalloproteinases in angiogenesis. Cell Res 1998; 8: 171-177.
13. Al Aqeel A, Sewairi W. An autosomal recessive syndrome with nodular arthropathy and acrolysis. Am J Hum Gen 1999; 65: A140.
14. Al Aqeel A, Sewairi W, Edress B, Gorlin RJ, Desnick R, Martignetti J. Inherited Multicentric osteolysis with arthritis: A variant resembling Torg Syndrome in a Saudi family. Am J Med Gen 2000; 93: 11-18.
15. Al Mayouf SM, Majeed M, Hugosson C and Bahabri S. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. Am J Med Genet 2000; 93: 5-10.
16. Martignetti JA, Al Aqeel A, Sewairi W, Boumah CE, Kambouris M, Mayouf S, et al. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Gen 2001; 28: 261-265.
17. Al-Aqeel AI, Al Sewairi WM, Desnick RJ. Al Aqeel Sewairi Syndrome, a new autosomal recessive disorder with multicentric osteolysis and arthritis with a novel mutation of matrix metalloproteinase 2 gene (MMP-2). AJHG 2001; 69: 592.
18. Martignetti JA, Al Aqeel AI, Al Sewairi W, Boumen CE, Kambouris M, Mayouf S, et al. The first matrix metalloproteinase disease: MMP-2 deficiency results in a multicentric osteolysis syndrome. AJHG 2001; 69: 189.
19. Al-Aqeel AI. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, arthropathy (MONA), OMIM #605156. In: Atlas of Metabolic Disease. London (UK): Arnold Health Sciences. (In press)
20. Jackson JBS. A boneless arm. Boston Med Surg J 1838; 18: 368-369.
21. Rosenbaum T. Idiopathic multicentric osteolysis. Am J Roentgenol 1976; 126: 23-31.
22. Morgunova E, Tuuttila A, Bergmann U, Isupov M, Lindqvist Y, Schneider G, et al. Structure of human pro-matrix matalloproteinase-2: activation mechanism revealed. Science 1999; 284: 1667-1670.
23. Nagase H. In: Zinc Metalloproteinase in Health and Disease. Hooper NM, editor. London (UK): Taylor and Francis; 1996. p. 153-204.
24. Fini ME, Cook JR, Mohan R, Brinckerhoft CE. In: Matrix metalloproteinases. Parks WC, Mechan, RP, editors. San Diego (CA): Academic Press; 1998. p. 299-356.
25. Matrix metalloproteinases and TIMPS. Woessner JF, Nagase H, editors. Chap. Xiii. Oxford (UK): Oxford University Press; 2000. p. 223.
26. Werb Z and Chin JR. Extracellular matrix remodeling during morphogenesis. Ann N Y Acad Sci 1998; 857: 101-108.
27. Schnaper HW, Grant DS, Stetler-Stevenson WG, Fridman R, D'Orazi G, Murphy AN, et al. Type IV collagenase(s) and TIMPs modulate endothelial cell morphogenesis in vitro. J Cell Physiol 1993; 156: 235-246.
28. Pilcher BK, Wang M, Qin XJ, Parks WC, Senior RM, Welgus HG. Role of matrix metalloproteinases and their inhibition in cutaneous wound healing and allergic contact hypersensitivity. Ann N Y Acad Sci 1999; 878: 12-24.
29. Bord S, Horner A, Hembry RM, Compston JE. Stromelysin-1 (MMP-3) and stromelysin-2 (MMP-10) expression in developing human bone: potential roles in skeletal development. Bone 1998; 23: 7-12.
30. Birkedal-Hansen H. Role of matrix metalloproteinases in human periodontal diseases. J Periodontol 1993; 64: 474-484.
31. Cockett MI, Murphy G, Birch ML, O'Connell JP, Crabbe T, Millican AT et al. Matrix metalloproteinases and metastatic cancer. Biochem Soc Symp 1998; 63: 295-313.
32. Van Wart HE and Birkedal-Hansen H. The cysteine switch: a principle of regulation of metalloproteinase activity with potential applicability to the entire matrix metalloproteinase gene family. Proc Natl Acad Sci USA 1990; 87: 5578-5582.
33. Morgunova E, Tuuttila A, Bergmann U, Isupov M, Lindqvist Y, Schneider G, et al. Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. Science 1999; 284: 1667-1670.
34. Brew K, Dinakarpandian D, Nagasae H. Tissue inhibitors of metalloproteinases: evolution, structure and function. Biochim Biophys Acta 2000; 1477: 267-283.
35. Butler GS, Will H, Atkinson SJ, Murphy G. Membrane-type-2 matrix metalloproteinase can initiate the processing of progelatinase A and is regulated by the tissue inhibitors of metalloproteinases. Eur J Biochem 1997; 244: 653-657.
36. Stetler-Stevenson WG, Krutzsch HC and Liotta LA. Tissue inhibitor of metalloproteinase (TIMP-2): A new member of the metalloproteinase inhibitor family. J Biol Chem 1989; 264: 17374-17378.
37. Strongin AY. Mechanism of cell surface activation of 72kDA type IV collagenese. Isolation of the activated form of the membrane metalloproteinase. J Biol Chem 1998; 273: 871-880.
38. Butler GS. The TIMP2 membrane type 1 metalloproteinase "receptor" regulates the concentration and efficient activation of progelatinase A. A kinetic study. J Biol Chem 1998; 273: 871-880.
39. Pilkington MF, Sims SM, Dixon SJ. Transforming growth factor-beta induces osteoclast ruffling and chemotaxis: potential role in osteoclast recruitment. J Bone Miner Res 2001; 7: 1237-1247.
40. Dallas SL, Rosser JL, Mundy GR, Bonewald LF. Proteolysis of latent transforming growth factor-beta (TGF-beta)-binding protein-1 by osteolcasts. A cellular mechanism for release of TGF-beta from bone matrix. J Biol Chem 2002; 277: 21352-21360.
41. Yu Q, Stamenkovic I. Cell surface-localized matrix metalloproteinase-9 activates TGF-beta and promotes tumor invasion and angiogenesis. Genes Dev 2000; 14: 163-176.
42. Holmbeck K, Bianco P, Caterina J, Yamada S, Kromer M, Kuznetsor SA, et al. MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis and connective tissue disease due to inadequate collagen turnover. Cell 1999; 99: 81-92.