[Camurati-Engelmann disease].

  • Akira Kinoshita
  • Published 2015 in
    Nihon rinsho. Japanese journal of clinical…

Abstract

Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. Estimated number of patients with CAEND in Japan is approximately 50-60 by our epidemiological survey. We have reported that domain-specific mutations in transforming growth factor-β1 gene(TGFB1) cause CAEND. Mutations in latency associated peptide(LAP) domain of TGF-β1 destabilize the complex and may hyperactivate TGF signal pathway. We tried to establish CAEND model mice by gene-targeting, but could not because of spermatogenesis defects in chimera mice. We also failed using CRISPR/Cas9 system. Alternatively, we established CAEND patient-derived iPS cells, and are advancing research with them to develop novel therapeutic agents for CAEND.

Cite this paper

@article{Kinoshita2015CamuratiEngelmannD, title={[Camurati-Engelmann disease].}, author={Akira Kinoshita}, journal={Nihon rinsho. Japanese journal of clinical medicine}, year={2015}, volume={73 12}, pages={2149-59} }