| Theme |
Genome analysis in the field of bone metabolism |
| Title |
Genetic analysis of Camurati-Engelmann disease |
| Author |
Koh-ichiro Yoshiura |
Department of Human Genetics, Nagasaki University Postgraduate School of Biomedical Sciences |
| [ Summary ] |
Camurati-Engelmann disease (CED) is characterized by increased membranous bone formation in the long bones and cranial bone, in an autosomal dominant trait fashion. The gene responsible for CED has been localized to the 19q13.1-13.3 by linkage analysis. DNA mutations were found in the transforming growth factor Beta1 gene (TGFB1) in patients with CED. Although the precise pathophysiology is unknown, the biological mechanism may be one with a secondary and tertiary structural change of the latency associated peptide (LAP) causing the constitutive activation of TGF-Beta1 in bonetissue. Reports of TGFB1 mutations in CED patients add new and direct evidence that TGF-Beta1 is connected with bone metabolism and provides encouragment to researchers, concerning to bone metabolism studies and the biochemical mechanisms related to bone turnover and TGF-Beta1. |