![[feed]](/style/images/feed-icon-14x14.png){kind=icon}
|
PDF (Original Article)
- Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
5MB | |
|
PDF (Supplemental Information)
- Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
1MB |
| Item Type: | Article |
|---|---|
| Title: | Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation |
| Creators Name: | Zhu, M. and Metzen, F. and Hopkinson, M. and Betz, J. and Heilig, J. and Sodhi, J. and Imhof, T. and Niehoff, A. and Birk, D.E. and Izu, Y. and Krüger, M. and Pitsillides, A. A. and Altmüller, J. and van Osch, G.J.V.M. and Straub, V. and Schreiber, G. and Paulsson, M. and Koch, M. and Brachvogel, B. |
| Abstract: | Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness. Here, we studied the role of collagen XII in joint pathophysiology by analyzing collagen XII deficient mice and human patients. We found that collagen XII is widely expressed across multiple connective tissue of the developing joint. Lack of collagen XII in mice destabilizes tendons and the femoral trochlear groove to induce patellar subluxation in the patellofemoral joint. These changes are associated with an ECM damage response in tendon and secondary quadriceps muscle degeneration. Moreover, patellar subluxation was also identified as a clinical feature of human patients with collagen XII deficiency. The results provide an explanation for joint hyperlaxity in mice and human patients with collagen XII deficiency. |
| Keywords: | Animals, Mice |
| Source: | iScience |
| ISSN: | 2589-0042 |
| Publisher: | Cell Press |
| Volume: | 26 |
| Number: | 7 |
| Page Range: | 107225 |
| Date: | 21 July 2023 |
| Official Publication: | https://doi.org/10.1016/j.isci.2023.107225 |
| PubMed: | View item in PubMed |
Repository Staff Only: item control page
Download Statistics
Download Statistics
