A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy
A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy
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新型II型胶原病股骨头软骨的组织学和超微结构研究
DOI：
10.1007/s00264-010-0985-9
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发表时间：
2010-12-01
影响因子：
2.7
通讯作者：
Huang, Dongsheng
中科院分区：
文献类型：
--
作者：
Su, Peiqiang;Zhang, Liangming;Huang, Dongsheng
近年来，在多个遗传性髋关节疾病家族中发现了一种新的II型胶原病，即由COL2A1的p.Gly1170Ser突变引起的早发性髋关节骨关节炎（OA）、股骨头缺血性坏死（ANFH）或股骨头缺血性坏死（LCP）。在这项研究中，股骨头软骨收获的组织学和超微结构检查，以确定预先存在的一般性异常的突变软骨。组织学结果显示，突变体软骨和包埋的软骨细胞的分级结构明显异常。突变体软骨切片中II型胶原的表达和分布不均匀。超微结构检查显示突变软骨中软骨细胞明显异常，胶原纤维排列紊乱。此外，预测的II型胶原蛋白的稳定性显着降低丝氨酸取代甘氨酸。我们的研究表明，p.Gly1170Ser突变的COL2A1引起关节软骨，这是负责新的II型胶原病的显着结构改变。
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-Calve-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.