The presence and distribution of various genes in postnatal CLP-affected palatine tissue
Abstract Background Worldwide cleft lip with or without a cleft palate (CL/P) is the most common craniofacial birth defect. Apart from changes in facial appearance, additionally affected individuals often suffer from various associated comorbidities requiring complex multidisciplinary treatment with...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-01-01
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| Series: | Maxillofacial Plastic and Reconstructive Surgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40902-024-00412-1 |
| _version_ | 1797350092352520192 |
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| author | Jana Goida Mara Pilmane |
| author_facet | Jana Goida Mara Pilmane |
| author_sort | Jana Goida |
| collection | DOAJ |
| description | Abstract Background Worldwide cleft lip with or without a cleft palate (CL/P) is the most common craniofacial birth defect. Apart from changes in facial appearance, additionally affected individuals often suffer from various associated comorbidities requiring complex multidisciplinary treatment with overall high expenses. Understanding the complete pathogenetic mechanisms of CL/P might aid in developing new preventative strategies and therapeutic approaches, help with genetic counselling, and improve quality of life. Many genes have been associated with the development of orofacial clefts; however, the majority require further research. Based on the role of PAX7, PAX9, SHH, SOX3, WNT3A, and WNT9B in orofacial development, the intention was to use chromogenic in situ hybridization to detect the six genes in postnatal CLP-affected palatine tissue and compare their distribution within the tissue samples. Results Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed. In total, 19 pairs of moderate to very strong positive correlations were noted. Conclusions Changes in the cleft-affected palatine epithelium primarily seem to be associated with the PAX7 gene; however, PAX9, WNT3A, WNT9B, and SOX3 role seems to be more limited. Whilst connective tissue changes seem to depend on PAX7 only, SHH seems to participate individually and indistinctly. Numerous positive correlations reflect the complicating interactions of the pathways and their components in the orofacial cleft morphopathogenesis. |
| first_indexed | 2024-03-08T12:39:50Z |
| format | Article |
| id | doaj.art-d2f558ea63b14d72857f599ca799bbb1 |
| institution | Directory Open Access Journal |
| issn | 2288-8586 |
| language | English |
| last_indexed | 2024-03-08T12:39:50Z |
| publishDate | 2024-01-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Maxillofacial Plastic and Reconstructive Surgery |
| spelling | doaj.art-d2f558ea63b14d72857f599ca799bbb12024-01-21T12:13:52ZengSpringerOpenMaxillofacial Plastic and Reconstructive Surgery2288-85862024-01-0146111310.1186/s40902-024-00412-1The presence and distribution of various genes in postnatal CLP-affected palatine tissueJana Goida0Mara Pilmane1Institute of Anatomy and Anthropology, Riga Stradins UniversityInstitute of Anatomy and Anthropology, Riga Stradins UniversityAbstract Background Worldwide cleft lip with or without a cleft palate (CL/P) is the most common craniofacial birth defect. Apart from changes in facial appearance, additionally affected individuals often suffer from various associated comorbidities requiring complex multidisciplinary treatment with overall high expenses. Understanding the complete pathogenetic mechanisms of CL/P might aid in developing new preventative strategies and therapeutic approaches, help with genetic counselling, and improve quality of life. Many genes have been associated with the development of orofacial clefts; however, the majority require further research. Based on the role of PAX7, PAX9, SHH, SOX3, WNT3A, and WNT9B in orofacial development, the intention was to use chromogenic in situ hybridization to detect the six genes in postnatal CLP-affected palatine tissue and compare their distribution within the tissue samples. Results Statistically significant differences in the distribution of PAX7, PAX9, WNT3A, and WNT9B were observed. In total, 19 pairs of moderate to very strong positive correlations were noted. Conclusions Changes in the cleft-affected palatine epithelium primarily seem to be associated with the PAX7 gene; however, PAX9, WNT3A, WNT9B, and SOX3 role seems to be more limited. Whilst connective tissue changes seem to depend on PAX7 only, SHH seems to participate individually and indistinctly. Numerous positive correlations reflect the complicating interactions of the pathways and their components in the orofacial cleft morphopathogenesis.https://doi.org/10.1186/s40902-024-00412-1Cleft lip and palatePAX7PAX9SHHSOX3WNT3A |
| spellingShingle | Jana Goida Mara Pilmane The presence and distribution of various genes in postnatal CLP-affected palatine tissue Maxillofacial Plastic and Reconstructive Surgery Cleft lip and palate PAX7 PAX9 SHH SOX3 WNT3A |
| title | The presence and distribution of various genes in postnatal CLP-affected palatine tissue |
| title_full | The presence and distribution of various genes in postnatal CLP-affected palatine tissue |
| title_fullStr | The presence and distribution of various genes in postnatal CLP-affected palatine tissue |
| title_full_unstemmed | The presence and distribution of various genes in postnatal CLP-affected palatine tissue |
| title_short | The presence and distribution of various genes in postnatal CLP-affected palatine tissue |
| title_sort | presence and distribution of various genes in postnatal clp affected palatine tissue |
| topic | Cleft lip and palate PAX7 PAX9 SHH SOX3 WNT3A |
| url | https://doi.org/10.1186/s40902-024-00412-1 |
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