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Published in: Current Rheumatology Reports 6/2013

01-06-2013 | OSTEOARTHRITIS (MB GOLDRING, SECTION EDITOR)

Understanding Developmental Mechanisms in the Context of Osteoarthritis

Author: Peter M. van der Kraan

Published in: Current Rheumatology Reports | Issue 6/2013

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Abstract

Osteoarthritis (OA) is a joint disease that is highly related to aging. However, as OA development is the consequence of interplay between external stimuli, such as mechanical loading and the structure and physiology of the joint, it can be anticipated that variation in developmental processes early in life will affect OA development later in life. Genes involved in patterning processes, such as the Hox genes, but also genes that encode transcription factors, growth factors and cytokines and their respective receptors and those that encode molecules involved in formation of the extracellular matrix, will influence embryonic skeletal development and OA incidence and severity in the adult. The function of genes involved in patterning processes can be partly be understood by close analysis of inborn diseases that result in musculoskeletal syndromes, but a deeper understanding will be the result of specific gene knockouts or overexpression in transgenic mouse models.
Literature
2.
go back to reference Person P, Philpott DE. The nature and significance of invertebrate cartilages. Biol Rev Camb Philos Soc. 1969;44(1):1–16.CrossRefPubMed Person P, Philpott DE. The nature and significance of invertebrate cartilages. Biol Rev Camb Philos Soc. 1969;44(1):1–16.CrossRefPubMed
3.
go back to reference Cole AG, Hall BK. The nature and significance of invertebrate cartilages revisited: distribution and histology of cartilage and cartilage-like tissues within the Metazoa. Zoology (Jena). 2004;107(4):261–73.CrossRef Cole AG, Hall BK. The nature and significance of invertebrate cartilages revisited: distribution and histology of cartilage and cartilage-like tissues within the Metazoa. Zoology (Jena). 2004;107(4):261–73.CrossRef
4.
go back to reference George D, Blieck A. Rise of the earliest tetrapods: an early Devonian origin from marine environment. PLoS One. 2011;6(7):e22136.CrossRefPubMed George D, Blieck A. Rise of the earliest tetrapods: an early Devonian origin from marine environment. PLoS One. 2011;6(7):e22136.CrossRefPubMed
5.
go back to reference Wu DD, Li GM, Jin W, Li Y, Zhang YP. Positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East Asians. PLoS One. 2012;7(8):e42553.CrossRefPubMed Wu DD, Li GM, Jin W, Li Y, Zhang YP. Positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East Asians. PLoS One. 2012;7(8):e42553.CrossRefPubMed
6.
go back to reference Krontveit RI, Trangerud C, Saevik BK, Skogmo HK, Nodtvedt A. Risk factors for hip-related clinical signs in a prospective cohort study of four large dog breeds in Norway. Prev Vet Med. 2012;103(2–3):219–27.CrossRefPubMed Krontveit RI, Trangerud C, Saevik BK, Skogmo HK, Nodtvedt A. Risk factors for hip-related clinical signs in a prospective cohort study of four large dog breeds in Norway. Prev Vet Med. 2012;103(2–3):219–27.CrossRefPubMed
7.
go back to reference Hall BK, Gillis JA. Incremental evolution of the neural crest, neural crest cells and neural crest-derived skeletal tissues. J Anat. 2012. Hall BK, Gillis JA. Incremental evolution of the neural crest, neural crest cells and neural crest-derived skeletal tissues. J Anat. 2012.
8.
go back to reference Adams CS, Shapiro IM. The fate of the terminally differentiated chondrocyte: evidence for microenvironmental regulation of chondrocyte apoptosis. Crit Rev Oral Biol Med. 2002;13(6):465–73.CrossRefPubMed Adams CS, Shapiro IM. The fate of the terminally differentiated chondrocyte: evidence for microenvironmental regulation of chondrocyte apoptosis. Crit Rev Oral Biol Med. 2002;13(6):465–73.CrossRefPubMed
9.
go back to reference Hammond CL, Schulte-Merker S. Two populations of endochondral osteoblasts with differential sensitivity to Hedgehog signalling. Development. 2009;136(23):3991–4000.CrossRefPubMed Hammond CL, Schulte-Merker S. Two populations of endochondral osteoblasts with differential sensitivity to Hedgehog signalling. Development. 2009;136(23):3991–4000.CrossRefPubMed
10.
go back to reference Pitsillides AA, Ashhurst DE. A critical evaluation of specific aspects of joint development. Dev Dyn. 2008;237(9):2284–94.CrossRefPubMed Pitsillides AA, Ashhurst DE. A critical evaluation of specific aspects of joint development. Dev Dyn. 2008;237(9):2284–94.CrossRefPubMed
11.
go back to reference Abu-Hijleh G, Reid O, Scothorne RJ. Cell death in the developing chick knee joint: I. Spatial and temporal patterns. Clin Anat. 1997;10(3):183–200.CrossRefPubMed Abu-Hijleh G, Reid O, Scothorne RJ. Cell death in the developing chick knee joint: I. Spatial and temporal patterns. Clin Anat. 1997;10(3):183–200.CrossRefPubMed
12.
go back to reference Kavanagh E, Church VL, Osborne AC, Lamb KJ, Archer CW, Francis-West PH, et al. Differential regulation of GDF-5 and FGF-2/4 by immobilisation in ovo exposes distinct roles in joint formation. Dev Dyn. 2006;235(3):826–34.CrossRefPubMed Kavanagh E, Church VL, Osborne AC, Lamb KJ, Archer CW, Francis-West PH, et al. Differential regulation of GDF-5 and FGF-2/4 by immobilisation in ovo exposes distinct roles in joint formation. Dev Dyn. 2006;235(3):826–34.CrossRefPubMed
13.
go back to reference • Waarsing JH, Kloppenburg M, Slagboom PE, Kroon HM, Houwing-Duistermaat JJ, Weinans H et al. Osteoarthritis susceptibility genes influence the association between hip morphology and osteoarthritis. Arthritis Rheum. 2011; 63(5):1349-1354. This article shows the relationship between joint morphology and OA development. • Waarsing JH, Kloppenburg M, Slagboom PE, Kroon HM, Houwing-Duistermaat JJ, Weinans H et al. Osteoarthritis susceptibility genes influence the association between hip morphology and osteoarthritis. Arthritis Rheum. 2011; 63(5):1349-1354. This article shows the relationship between joint morphology and OA development.
14.
go back to reference Haverkamp DJ, Schiphof D, Bierma-Zeinstra SM, Weinans H, Waarsing JH. Variation in joint shape of osteoarthritic knees. Arthritis Rheum. 2011;63(11):3401–7.CrossRefPubMed Haverkamp DJ, Schiphof D, Bierma-Zeinstra SM, Weinans H, Waarsing JH. Variation in joint shape of osteoarthritic knees. Arthritis Rheum. 2011;63(11):3401–7.CrossRefPubMed
15.
go back to reference Bullough PG. The role of joint architecture in the etiology of arthritis. Osteoarthritis Cartilage 2004; 12 Suppl A:S2-S9. Bullough PG. The role of joint architecture in the etiology of arthritis. Osteoarthritis Cartilage 2004; 12 Suppl A:S2-S9.
16.
go back to reference Bullough PG. The geometry of diarthrodial joints, its physiologic maintenance, and the possible significance of age-related changes in geometry-to-load distribution and the development of osteoarthritis. Clin Orthop Relat Res. 1981;156:61–6.PubMed Bullough PG. The geometry of diarthrodial joints, its physiologic maintenance, and the possible significance of age-related changes in geometry-to-load distribution and the development of osteoarthritis. Clin Orthop Relat Res. 1981;156:61–6.PubMed
17.
go back to reference Reinstein E, Pariani M, Lachman RS, Nemec S, Rimoin DL. Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. Am J Med Genet A. 2012;158A(4):938–41.CrossRefPubMed Reinstein E, Pariani M, Lachman RS, Nemec S, Rimoin DL. Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. Am J Med Genet A. 2012;158A(4):938–41.CrossRefPubMed
18.
go back to reference Merker HJ, Heger W, Sames K, Sturje H, Neubert D. Embryotoxic effects of thalidomide-derivatives in the non-human primate Callithrix jacchus. I. Effects of 3-(1,3-dihydro-1-oxo-2H-isoindol-2-yl)-2,6-dioxopiperidine (EM12) on skeletal development. Arch Toxicol. 1988;61(3):165–79.CrossRefPubMed Merker HJ, Heger W, Sames K, Sturje H, Neubert D. Embryotoxic effects of thalidomide-derivatives in the non-human primate Callithrix jacchus. I. Effects of 3-(1,3-dihydro-1-oxo-2H-isoindol-2-yl)-2,6-dioxopiperidine (EM12) on skeletal development. Arch Toxicol. 1988;61(3):165–79.CrossRefPubMed
19.
go back to reference Sears KE. Molecular determinants of bat wing development. Cells Tissues Organs. 2008;187(1):6–12.CrossRefPubMed Sears KE. Molecular determinants of bat wing development. Cells Tissues Organs. 2008;187(1):6–12.CrossRefPubMed
20.
21.
go back to reference Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A(5):943–68.PubMed Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A(5):943–68.PubMed
22.
go back to reference • Gross S, Krause Y, Wuelling M, Vortkamp A. Hoxa11 and Hoxd11 regulate chondrocyte differentiation upstream of Runx2 and Shox2 in mice. PLoS One 2012; 7(8):e43553. This article shows that Hox genes are not only important for early development but also important for chondrocyte differentiation. • Gross S, Krause Y, Wuelling M, Vortkamp A. Hoxa11 and Hoxd11 regulate chondrocyte differentiation upstream of Runx2 and Shox2 in mice. PLoS One 2012; 7(8):e43553. This article shows that Hox genes are not only important for early development but also important for chondrocyte differentiation.
23.
go back to reference • Tavella S, Bobola N. Expressing Hoxa2 across the entire endochondral skeleton alters the shape of the skeletal template in a spatially restricted fashion. Differentiation 2010; 79(3):194-202. This article shows that Hox genes are not only important for early development but also important for chondrocyte differentiation. • Tavella S, Bobola N. Expressing Hoxa2 across the entire endochondral skeleton alters the shape of the skeletal template in a spatially restricted fashion. Differentiation 2010; 79(3):194-202. This article shows that Hox genes are not only important for early development but also important for chondrocyte differentiation.
24.
go back to reference Albrecht AN, Schwabe GC, Stricker S, Boddrich A, Wanker EE, Mundlos S. The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements. Mech Dev. 2002;112(1–2):53–67.CrossRefPubMed Albrecht AN, Schwabe GC, Stricker S, Boddrich A, Wanker EE, Mundlos S. The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements. Mech Dev. 2002;112(1–2):53–67.CrossRefPubMed
25.
go back to reference Villavicencio-Lorini P, Kuss P, Friedrich J, Haupt J, Farooq M, Turkmen S, et al. Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. J Clin Invest. 2010;120(6):1994–2004.CrossRefPubMed Villavicencio-Lorini P, Kuss P, Friedrich J, Haupt J, Farooq M, Turkmen S, et al. Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. J Clin Invest. 2010;120(6):1994–2004.CrossRefPubMed
26.
go back to reference Nishimura R, Hata K, Ono K, Amano K, Takigawa Y, Wakabayashi M, et al. Regulation of endochondral ossification by transcription factors. Front Biosci. 2012;17:2657–66.CrossRefPubMed Nishimura R, Hata K, Ono K, Amano K, Takigawa Y, Wakabayashi M, et al. Regulation of endochondral ossification by transcription factors. Front Biosci. 2012;17:2657–66.CrossRefPubMed
27.
go back to reference Han Y, Lefebvre V. L-Sox5 and Sox6 drive expression of the aggrecan gene in cartilage by securing binding of Sox9 to a far-upstream enhancer. Mol Cell Biol. 2008;28(16):4999–5013.CrossRefPubMed Han Y, Lefebvre V. L-Sox5 and Sox6 drive expression of the aggrecan gene in cartilage by securing binding of Sox9 to a far-upstream enhancer. Mol Cell Biol. 2008;28(16):4999–5013.CrossRefPubMed
28.
go back to reference Lee JS, Im GI. SOX trio decrease in the articular cartilage with the advancement of osteoarthritis. Connect Tissue Res. 2011;52(6):496–502.CrossRefPubMed Lee JS, Im GI. SOX trio decrease in the articular cartilage with the advancement of osteoarthritis. Connect Tissue Res. 2011;52(6):496–502.CrossRefPubMed
29.
go back to reference Unger S, Scherer G, Superti-Furga A. Campomelic dysplasia. 2008 Jul 31. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993. Unger S, Scherer G, Superti-Furga A. Campomelic dysplasia. 2008 Jul 31. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
30.
go back to reference • Dy P, Smits P, Silvester A, Penzo-Mendez A, Dumitriu B, Han Y et al. Synovial joint morphogenesis requires the chondrogenic action of Sox5 and Sox6 in growth plate and articular cartilage. Dev Biol. 2010; 341(2):346-359. This article exemplifies the role of Sox5 and Sox6 in joint formation. • Dy P, Smits P, Silvester A, Penzo-Mendez A, Dumitriu B, Han Y et al. Synovial joint morphogenesis requires the chondrogenic action of Sox5 and Sox6 in growth plate and articular cartilage. Dev Biol. 2010; 341(2):346-359. This article exemplifies the role of Sox5 and Sox6 in joint formation.
31.
go back to reference Arnold MA, Kim Y, Czubryt MP, Phan D, McAnally J, Qi X, et al. MEF2C transcription factor controls chondrocyte hypertrophy and bone development. Dev Cell. 2007;12(3):377–89.CrossRefPubMed Arnold MA, Kim Y, Czubryt MP, Phan D, McAnally J, Qi X, et al. MEF2C transcription factor controls chondrocyte hypertrophy and bone development. Dev Cell. 2007;12(3):377–89.CrossRefPubMed
32.
go back to reference Sasagawa S, Takemori H, Uebi T, Ikegami D, Hiramatsu K, Ikegawa S, et al. SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice. Development. 2012;139(6):1153–63.CrossRefPubMed Sasagawa S, Takemori H, Uebi T, Ikegami D, Hiramatsu K, Ikegawa S, et al. SIK3 is essential for chondrocyte hypertrophy during skeletal development in mice. Development. 2012;139(6):1153–63.CrossRefPubMed
33.
go back to reference Sun X, Wei L, Chen Q, Terek RM. HDAC4 represses vascular endothelial growth factor expression in chondrosarcoma by modulating RUNX2 activity. J Biol Chem. 2009;284(33):21881–90.CrossRefPubMed Sun X, Wei L, Chen Q, Terek RM. HDAC4 represses vascular endothelial growth factor expression in chondrosarcoma by modulating RUNX2 activity. J Biol Chem. 2009;284(33):21881–90.CrossRefPubMed
34.
go back to reference Enomoto H, Enomoto-Iwamoto M, Iwamoto M, Nomura S, Himeno M, Kitamura Y, et al. Cbfa1 is a positive regulatory factor in chondrocyte maturation. J Biol Chem. 2000;275(12):8695–702.CrossRefPubMed Enomoto H, Enomoto-Iwamoto M, Iwamoto M, Nomura S, Himeno M, Kitamura Y, et al. Cbfa1 is a positive regulatory factor in chondrocyte maturation. J Biol Chem. 2000;275(12):8695–702.CrossRefPubMed
35.
go back to reference Soung dY, Talebian L, Matheny CJ, Guzzo R, Speck ME, Lieberman JR, et al. Runx1 dose-dependently regulates endochondral ossification during skeletal development and fracture healing. J Bone Miner Res. 2012;27(7):1585–97.CrossRef Soung dY, Talebian L, Matheny CJ, Guzzo R, Speck ME, Lieberman JR, et al. Runx1 dose-dependently regulates endochondral ossification during skeletal development and fracture healing. J Bone Miner Res. 2012;27(7):1585–97.CrossRef
36.
go back to reference Sato S, Kimura A, Ozdemir J, Asou Y, Miyazaki M, Jinno T, et al. The distinct role of the Runx proteins in chondrocyte differentiation and intervertebral disc degeneration: findings in murine models and in human disease. Arthritis Rheum. 2008;58(9):2764–75.CrossRefPubMed Sato S, Kimura A, Ozdemir J, Asou Y, Miyazaki M, Jinno T, et al. The distinct role of the Runx proteins in chondrocyte differentiation and intervertebral disc degeneration: findings in murine models and in human disease. Arthritis Rheum. 2008;58(9):2764–75.CrossRefPubMed
37.
go back to reference Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002;3(4):381–5.CrossRefPubMed Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002;3(4):381–5.CrossRefPubMed
38.
go back to reference Akawi NA, Ali BR, Al-Gazali L. Stuve-Wiedemann syndrome and related bent bone dysplasias. Clin Genet. 2012;82(1):12–21.CrossRefPubMed Akawi NA, Ali BR, Al-Gazali L. Stuve-Wiedemann syndrome and related bent bone dysplasias. Clin Genet. 2012;82(1):12–21.CrossRefPubMed
39.
go back to reference Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38(5):525–7.CrossRefPubMed Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38(5):525–7.CrossRefPubMed
40.
go back to reference Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115(3):622–31.PubMed Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115(3):622–31.PubMed
41.
go back to reference Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115(3):622–31.PubMed Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, et al. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005;115(3):622–31.PubMed
42.
go back to reference Henry SP, Liang S, Akdemir KC, de Crombrugghe B. The postnatal role of Sox9 in cartilage. J Bone Miner Res. 2012;27(12):2511–25.CrossRefPubMed Henry SP, Liang S, Akdemir KC, de Crombrugghe B. The postnatal role of Sox9 in cartilage. J Bone Miner Res. 2012;27(12):2511–25.CrossRefPubMed
43.
go back to reference Xu L, Polur I, Servais JM, Hsieh S, Lee PL, Goldring MB, et al. Intact pericellular matrix of articular cartilage is required for unactivated discoidin domain receptor 2 in the mouse model. Am J Pathol. 2011;179(3):1338–46.CrossRefPubMed Xu L, Polur I, Servais JM, Hsieh S, Lee PL, Goldring MB, et al. Intact pericellular matrix of articular cartilage is required for unactivated discoidin domain receptor 2 in the mouse model. Am J Pathol. 2011;179(3):1338–46.CrossRefPubMed
Metadata
Title
Understanding Developmental Mechanisms in the Context of Osteoarthritis
Author
Peter M. van der Kraan
Publication date
01-06-2013
Publisher
Current Science Inc.
Published in
Current Rheumatology Reports / Issue 6/2013
Print ISSN: 1523-3774
Electronic ISSN: 1534-6307
DOI
https://doi.org/10.1007/s11926-013-0333-3

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