Research press release


Nature Cell Biology

Getting to the root of oculo-facial-cardio-dental syndrome


胚発生の際の遺伝子発現の停止にかかわるタンパク質であるBCORの変異がOFCDに関連があるのは既に知られているが、BCORの機能が障害されるとOFCDでみられるような欠陥がどうして生じるのか、その仕組みはわかっていない。C Yangたちは、OFCD患者の歯根から単離した間葉系幹細胞は、歯および骨の細胞に分化する傾向が強くなっていることを見いだした。これらの細胞でBCORを発現させると、分化傾向が正常に戻った。一方、正常な間葉系幹細胞からBCORを除去すると、やはり骨と歯の形成が増強されるようになることもわかった。



An insight into the underlying causes of oculo-facial-cardio-dental syndrome (OFCD) ― a rare genetic disorder characterized by elongated roots of teeth, craniofacial, cardiac and eye abnormalities ― is provided online this week in Nature Cell Biology. The study could help shed light on the process that causes this disease.

Mutations in BCOR, a protein associated with shutting down gene expression during fetal development, are known to be associated with OFCD, but how disrupting BCOR function results in the defects seen in OFCD is not known. Cun-Yu Wang and colleagues show that mesenchymal stem cells isolated from the tooth roots of OFCD patients have an enhanced tendency to develop into dental and bone cells. Expressing BCOR in these cells can reverse this phenomenon. Removing BCOR from healthy mesenchymal stem cells was found to also result in increased formation of bone and dental cells.

The authors also show that transcription factor that is known to play a role in craniofacial development, is highly expressed in mesenchymal stem cells from OFCD patients' teeth roots. Removing this factor from the cells reverses their enhanced tendency to develop into dental and bone cells, indicating that this transcription factor is responsible for these changes.

These findings provide a molecular explanation for the exaggerated dental and craniofacial features seen in patients with OFCD.

doi: 10.1038/ncb1913


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