初级纤毛具有多种功能,例如从细胞外微环境接收信号,介导信号转导,运输纤毛物质,在组织器官发育和临床疾病发病机制中。在口腔和颌面部区域的早期发育期间(10周内的胚胎),原发性纤毛的结构和功能缺陷可导致严重的颅面畸形。例如,纤毛相关基因Kif3a和IFT88突变的小鼠表现出中线扩张和唇腭裂,这是由于单个额鼻突和上颌突融合异常而发生的。在口腔颌面部的后续发展中,我们讨论了初级纤毛在上颌骨发育中的调节作用,下颌骨,Meckel软骨,髁突软骨,唇,舌头,牙齿,在其他人中。此外,初级纤毛是一些口腔颌面部疾病有前途的调节剂,如肿瘤和错牙合。我们还总结了初级纤毛在口腔颌面部发育和相关疾病中的调节机制。包括它们在各种信号转导途径中的作用。例如,Kif3a突变小鼠的颌下腺发育不全与腺体内SHH信号传导的减少有关。这篇综述总结了初级纤毛在口腔颌面部组织和器官发育以及疾病进展中的作用的相似性和特异性,这有望为原发性纤毛相关疾病的治疗提供一些想法。
Primary
cilia have versatile functions, such as receiving signals from the extracellular microenvironment, mediating signaling transduction, and transporting ciliary substances, in tissue and organ development and clinical disease pathogenesis. During early development (embryos within 10 weeks) in the oral and maxillofacial region, defects in the structure and function of primary cilia can result in severe craniofacial malformations. For example, mice with mutations in the
cilia-related genes Kif3a and IFT88 exhibit midline expansion and cleft lip/palate, which occur due to abnormalities in the fusion of the single frontonasal prominence and maxillary prominences. In the subsequent development of the oral and maxillofacial region, we discussed the regulatory role of primary cilia in the development of the maxilla, mandible, Meckel cartilage, condylar cartilage, lip, tongue, and tooth, among others. Moreover, primary
cilia are promising regulators in some oral and maxillofacial diseases, such as tumors and malocclusion. We also summarize the regulatory mechanisms of primary
cilia in oral and maxillofacial development and related diseases, including their role in various signaling transduction pathways. For example, aplasia of submandibular glands in the Kif3a mutant mice is associated with a decrease in SHH signaling within the glands. This review summarizes the similarities and specificities of the role of primary
cilia in tissue and organ development and disease progression in the oral and maxillofacial region, which is expected to contribute several ideas for the treatment of primary cilia-related diseases.