L’achondroplasie : du génotype au phénotype

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• 作者：Pascal Richette ; Thomas Bardin ; Chantal Stheneur
• 关键词：Achondroplasia ; Fibroblast growth factor receptor-3 ; Endochondral ossification
• 刊名：Revue du Rhumatisme
• 出版年：2008
• 出版时间：May 2008
• 年：2008
• 卷：75
• 期：5
• 页码：405-411
• 全文大小：681 K

文摘

Fetuses derived from transgenic mice expressing FGFR3^Ach under the control of the type II collagen promoter (AchTG) or from wild-type mice were obtained on the 15th day of pregnancy. The femurs were collected from these specimens and cultured for 4 days with PTH. The effects of PTH treatment were then determined by morphometric and histological analyses, in situ hybridization of type X collagen mRNA, and the TUNEL assay.

Results

AchTG femurs showed suppressed growth compared with wild type (0.29 ± 0.10 mm vs. 0.46 ± 0.06 mm, respectively; p < 0.05), particularly in cartilage. PTH treatments improved the growth velocity in the femurs of the AchTG (0.50 ± 0.06 mm; p < 0.01 vs. control). This was associated with the inhibition of both differentiation and apoptosis in chondrocytes.

Conclusions

Our data suggest that PTH inhibits differentiation and apoptosis in chondrocytes and improves bone growth. These effects thus counterbalance the effects of FGFR3 mutations. PTH therefore is a potential therapeutic agent for achondroplasia.