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PAX7, PAX9 and RYK Expression in Cleft Affected Tissue
Mārtiņš Vaivads1, Ilze Akota2,3, Māra Pilmane1
1Department of Morphology, Institute of Anatomy and Anthropology, Riga Stradins University, Kronvalda Boulevard 9, LV-1010 Riga, Latvia.
Medicina (Kaunas, Lithuania)
|October 23, 2021
Summary
Paired box 7 (PAX7) and paired box 9 (PAX9) transcription factors, along with receptor-like tyrosine kinase (RYK), show varied roles in orofacial cleft development. PAX7 is linked to unilateral cleft lip, PAX9 to isolated cleft palate, and RYK appears in all cleft types.
Area of Science:
- Developmental Biology
- Genetics
- Craniofacial Research
Background:
- Orofacial clefts are common congenital malformations.
- PAX7, PAX9, and RYK genes are implicated in cleft formation, but their specific roles and interactions in different cleft types are unclear.
- Limited studies exist on these factors in cleft-affected human tissue due to ethical and material constraints.
Purpose of the Study:
- To analyze the presence and distribution of PAX7, PAX9, and RYK immunopositive structures in various human orofacial cleft tissues.
- To assess the potential involvement and interactions of these factors in the morphopathogenesis of different cleft types.
Main Methods:
- Immunohistochemical analysis of PAX7, PAX9, and RYK in tissue samples from patients with unilateral cleft lip, bilateral cleft lip, and isolated cleft palate.
- Comparison with control oral cavity tissue from individuals without clefts.
- Semiquantitative counting of immunopositive structures and non-parametric statistical analysis (Kruskal-Wallis H, Mann-Whitney U, Spearman's rank correlation).
Main Results:
- Significant differences in the number of PAX7, PAX9, and RYK positive cells were observed between control and patient groups.
- Multiple significant correlations were identified between PAX7, PAX9, and RYK within each cleft tissue type.
- PAX7 showed a stronger association with unilateral cleft lip, while PAX9 was more related to isolated cleft palate.
Conclusions:
- PAX7, PAX9, and RYK exhibit variable involvement and interaction in the postnatal development of orofacial clefts.
- PAX7 is predominantly associated with unilateral cleft lip formation.
- PAX9 is more linked to isolated cleft palate, and RYK's consistent presence suggests a role in diverse facial cleft formations.
