Thoughts on the Etiology of Cherubism
Cherubism is nowadays classified as an autoimmune disease and was first described in 1933. Although suspected at that time to be the result of defective tooth development, it was primarily classified as a bone disease caused by a mutation in the <i>SH3BP2</i> gene. Despite a knock-in mou...
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| Format: | Article |
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MDPI AG
2024-04-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/13/7/2082 |
| _version_ | 1797212367296135168 |
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| author | Peter Hyckel Thomas Liehr |
| author_facet | Peter Hyckel Thomas Liehr |
| author_sort | Peter Hyckel |
| collection | DOAJ |
| description | Cherubism is nowadays classified as an autoimmune disease and was first described in 1933. Although suspected at that time to be the result of defective tooth development, it was primarily classified as a bone disease caused by a mutation in the <i>SH3BP2</i> gene. Despite a knock-in mouse model, phenotypic signs in the jaw area were not reproducible in this model. The features of classical cherubism can be attributed to a disturbed formation of the dental placode of the second molar. Since 2019, it has become clear that inhibition of the WNT pathway leads to the accumulation of SH3BP2 via tankyrase inhibition. As the dental placode is triggered via WNT (in epithelia) and MSX1 (in mesenchyme), aplasia of the second and third molars occurs due to a block in the WNT pathway. The mesenchymal part, which occurs prior to the body plan regulation of the WNT/MSX1 pathway, remains unaffected and provides the substrate for the giant cell granuloma. Considering macrophage polarization and the role of the extracellular matrix in general, cherubism is situated in the field of tension between autoimmune diseases and cancer. In this sense, we see the cause of cherubism in a WNT-related dysregulation, which can be proven postnatally in the neural crest-related tooth development of the replacement tooth ridge, both genotypically and phenotypically. |
| first_indexed | 2024-04-24T10:41:15Z |
| format | Article |
| id | doaj.art-748accb240d944ada7182b3efbb09424 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-04-24T10:41:15Z |
| publishDate | 2024-04-01 |
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| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-748accb240d944ada7182b3efbb094242024-04-12T13:21:29ZengMDPI AGJournal of Clinical Medicine2077-03832024-04-01137208210.3390/jcm13072082Thoughts on the Etiology of CherubismPeter Hyckel0Thomas Liehr1Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, 07747 Jena, GermanyJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, 07747 Jena, GermanyCherubism is nowadays classified as an autoimmune disease and was first described in 1933. Although suspected at that time to be the result of defective tooth development, it was primarily classified as a bone disease caused by a mutation in the <i>SH3BP2</i> gene. Despite a knock-in mouse model, phenotypic signs in the jaw area were not reproducible in this model. The features of classical cherubism can be attributed to a disturbed formation of the dental placode of the second molar. Since 2019, it has become clear that inhibition of the WNT pathway leads to the accumulation of SH3BP2 via tankyrase inhibition. As the dental placode is triggered via WNT (in epithelia) and MSX1 (in mesenchyme), aplasia of the second and third molars occurs due to a block in the WNT pathway. The mesenchymal part, which occurs prior to the body plan regulation of the WNT/MSX1 pathway, remains unaffected and provides the substrate for the giant cell granuloma. Considering macrophage polarization and the role of the extracellular matrix in general, cherubism is situated in the field of tension between autoimmune diseases and cancer. In this sense, we see the cause of cherubism in a WNT-related dysregulation, which can be proven postnatally in the neural crest-related tooth development of the replacement tooth ridge, both genotypically and phenotypically.https://www.mdpi.com/2077-0383/13/7/2082cherubismWNT/MSX1 pathwaydefective tooth development |
| spellingShingle | Peter Hyckel Thomas Liehr Thoughts on the Etiology of Cherubism Journal of Clinical Medicine cherubism WNT/MSX1 pathway defective tooth development |
| title | Thoughts on the Etiology of Cherubism |
| title_full | Thoughts on the Etiology of Cherubism |
| title_fullStr | Thoughts on the Etiology of Cherubism |
| title_full_unstemmed | Thoughts on the Etiology of Cherubism |
| title_short | Thoughts on the Etiology of Cherubism |
| title_sort | thoughts on the etiology of cherubism |
| topic | cherubism WNT/MSX1 pathway defective tooth development |
| url | https://www.mdpi.com/2077-0383/13/7/2082 |
| work_keys_str_mv | AT peterhyckel thoughtsontheetiologyofcherubism AT thomasliehr thoughtsontheetiologyofcherubism |