Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
International Orthopaedics
Published in: International Orthopaedics 8/2010

01-12-2010 | Original Paper

A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy

Authors: Peiqiang Su, Liangming Zhang, Yan Peng, Anjing Liang, Kaili Du, Dongsheng Huang

Published in: International Orthopaedics | Issue 8/2010

Login to get access

Abstract

A new type II collagenopathy, caused by the p.Gly1170Ser mutation of COL2A1, which presents as premature hip osteoarthritis (OA), avascular necrosis of the femoral head (ANFH) or Legg-Calvé-Perthes (LCP) disease, was recently found in several families with an inherited disease of the hip joint. In this study, femoral head cartilage was harvested for histological and ultrastructural examination to determine the pre-existing generalised abnormalities of the mutant cartilage. The histological results showed that the hierarchical structure of the mutant cartilage and the embedded chondrocytes were markedly abnormal. The expression and distribution of type II collagen was non-uniform in sections of the mutant cartilage. Ultrastructural examination showed obvious abnormal chondrocytes and disarrangement of collagen fibres in the mutant cartilage. Furthermore, the predicted stability of type II collagen dramatically decreased with the substitution of serine for glycine. Our study demonstrated that the p.Gly1170Ser mutation of COL2A1 caused significant structural alterations in articular cartilage, which are responsible for the new type II collagenopathy.
Literature
1.
Prockop DJ, Kivirikko KI (1995) Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 64:403–434PubMedCrossRef
2.
Ramirez F, Boast S, D’Alessio M, Lee B, Prince J, Su MW, Vissing H, Yoshioka H (1990) Fibrillar collagen genes. Structure and expression in normal and diseased states. Ann N Y Acad Sci 580:74–80PubMedCrossRef
3.
Kuivaniemi H, Tromp G, Prockop DJ (1997) Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300–315PubMedCrossRef
4.
Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S (2005) The phenotypic spectrum of COL2A1 mutations. Hum Mutat 26:36–43PubMedCrossRef
5.
Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S (2007) A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet 121:625–629PubMedCrossRef
6.
Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF (2005) Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med 352:2294–2301PubMedCrossRef
7.
Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y (2008) Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum 58:1701–1706PubMedCrossRef
8.
Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF (2004) Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. Am J Hum Genet 75:310–317PubMedCrossRef
9.
Spranger J, Winterpacht A, Zabel B (1994) The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 153:56–65PubMed
10.
Godfrey M, Keene DR, Blank E, Hori H, Sakai LY, Sherwin LA, Hollister DW (1988) Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. Am J Hum Genet 43:894–903PubMed
11.
Godfrey M, Hollister DW (1988) Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet 43:904–913PubMed
12.
Bonaventure J, Cohen-Solal L, Ritvaniemi P, van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L (1995) Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. Biochem J 307(Pt 3):823–830PubMed
13.
Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ (2000) Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet 92:95–100PubMedCrossRef
14.
Assouline-Dayan Y, Chang C, Greenspan A, Shoenfeld Y, Gershwin ME (2002) Pathogenesis and natural history of osteonecrosis. Semin Arthritis Rheum 32:94–124PubMed
15.
Mont MA, Jones LC, Hungerford DS (2006) Nontraumatic osteonecrosis of the femoral head: ten years later. J Bone Jt Surg Am 88:1117–1132CrossRef
16.
Floerkemeier T, Thorey F, Daentzer D, Lerch M, Klages P, Windhagen H, von Lewinski G (2010) Clinical and radiological outcome of the treatment of osteonecrosis of the femoral head using the osteonecrosis intervention implant. Int Orthop. doi:10.​1007/​s00264-009-0940-9
17.
Vukasinovic Z, Spasovski D, Vucetic C, Cobeljic G, Zivkovic Z, Matanovic D (2009) Triple pelvic osteotomy in the treatment of Legg-Calve-Perthes disease. Int Orthop 33:1377–1383PubMedCrossRef
18.
Kim YH, Choi Y, Kim JS (2009) Cementless total hip arthroplasty with ceramic-on-ceramic bearing in patients younger than 45 years with femoral-head osteonecrosis. Int Orthop. doi:10.​1007/​s00264-009-0878-y
19.
Kellgren JH, Jeffrey MR, Ball J (1963) The epidemiology of chronic rheumatism. Vol II: Atlas of standard radiographs of arthritis. Blackwell Scientific, Oxford
20.
Hunziker EB, Wagner J, Studer D (1996) Vitrified articular cartilage reveals novel ultra-structural features respecting extracellular matrix architecture. Histochem Cell Biol 106:375–382PubMedCrossRef
21.
Hunziker EB, Michel M, Studer D (1997) Ultrastructure of adult human articular cartilage matrix after cryotechnical processing. Microsc Res Tech 37:271–284PubMedCrossRef
22.
Persikov AV, Ramshaw JA, Brodsky B (2005) Prediction of collagen stability from amino acid sequence. J Biol Chem 280:19343–19349PubMedCrossRef
23.
Mow VC, Gu WY, Chen FH (2005) Structure and function of articular cartilage and meniscus. Lippincott Williams and Wilkins, Philadelphia, pp 181–258
Metadata
Title
A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy
Authors
Peiqiang Su
Liangming Zhang
Yan Peng
Anjing Liang
Kaili Du
Dongsheng Huang
Publication date
01-12-2010
Publisher
Springer-Verlag
Published in
International Orthopaedics / Issue 8/2010
Print ISSN: 0341-2695
Electronic ISSN: 1432-5195
DOI
https://doi.org/10.1007/s00264-010-0985-9

Other articles of this Issue 8/2010

International Orthopaedics 8/2010 Go to the issue

Original Paper

Risk factors in cutout of sliding hip screw in intertrochanteric fractures: an evaluation of 937 patients

Original Paper

Treatment of benign lesions of humerus with resection and non-vascularised, autologous fibular graft

Original Paper

Five-year results of the Innex total knee arthroplasty system

Original Paper

Arthroscopic treatment for malunions of the proximal humeral greater tuberosity

Original Paper

Total shoulder arthroplasty in dislocation arthropathy

Original Paper

Repair of fresh patellar tendon rupture: tension regulation at the suture line