Karpinski Beverly A, Maynard Thomas M, Bryan Corey A, Yitsege Gelila, Horvath Anelia, Lee Norman H, Moody Sally A, LaMantia Anthony-Samuel
Department of Anatomy and Cell Biology, The George Washington School of Medicine and Health Sciences, Washington DC, 20037, USA.
The Fralin Biomedical Research Institute, Virginia Tech Carilion School of Medicine, Roanoke, VA 24014, USA.
Dis Model Mech. 2022 Feb 1;15(2). doi: 10.1242/dmm.047357. Epub 2021 May 4.
22q11.2 Deletion Syndrome (22q11DS) is a neurodevelopmental disorder associated with cranial nerve anomalies and disordered oropharyngeal function, including pediatric dysphagia. Using the LgDel 22q11DS mouse model, we investigated whether sensory neuron differentiation in the trigeminal ganglion (CNgV), which is essential for normal orofacial function, is disrupted. We did not detect changes in cranial placode cell translocation or neural crest migration at early stages of LgDel CNgV development. However, as the ganglion coalesces, proportions of placode-derived LgDel CNgV cells increase relative to neural crest cells. In addition, local aggregation of placode-derived cells increases and aggregation of neural crest-derived cells decreases in LgDel CNgV. This change in cell-cell relationships was accompanied by altered proliferation of placode-derived cells at embryonic day (E)9.5, and premature neurogenesis from neural crest-derived precursors, reflected by an increased frequency of asymmetric neurogenic divisions for neural crest-derived precursors by E10.5. These early differences in LgDel CNgV genesis prefigure changes in sensory neuron differentiation and gene expression by postnatal day 8, when early signs of cranial nerve dysfunction associated with pediatric dysphagia are observed in LgDel mice. Apparently, 22q11 deletion destabilizes CNgV sensory neuron genesis and differentiation by increasing variability in cell-cell interaction, proliferation and sensory neuron differentiation. This early developmental divergence and its consequences may contribute to oropharyngeal dysfunction, including suckling, feeding and swallowing disruptions at birth, and additional orofacial sensory/motor deficits throughout life.
22q11.2缺失综合征(22q11DS)是一种神经发育障碍,与颅神经异常及口咽功能紊乱有关,包括小儿吞咽困难。我们使用LgDel 22q11DS小鼠模型,研究了对于正常口面部功能至关重要的三叉神经节(CNgV)中的感觉神经元分化是否受到破坏。在LgDel CNgV发育的早期阶段,我们未检测到颅基板细胞移位或神经嵴迁移的变化。然而,随着神经节融合,相对于神经嵴细胞,基板来源的LgDel CNgV细胞比例增加。此外,在LgDel CNgV中,基板来源细胞的局部聚集增加,而神经嵴来源细胞的聚集减少。这种细胞间关系的变化伴随着胚胎第9.5天基板来源细胞增殖的改变,以及神经嵴来源前体细胞的过早神经发生,到胚胎第10.5天,神经嵴来源前体细胞不对称神经源性分裂的频率增加就反映了这一点。LgDel CNgV发生过程中的这些早期差异预示着出生后第8天感觉神经元分化和基因表达的变化,此时在LgDel小鼠中观察到了与小儿吞咽困难相关的颅神经功能障碍的早期迹象。显然,22q11缺失通过增加细胞间相互作用、增殖和感觉神经元分化的变异性,破坏了CNgV感觉神经元发生和分化的稳定性。这种早期发育差异及其后果可能导致口咽功能障碍,包括出生时的吸吮、喂养和吞咽障碍,以及一生中额外的口面部感觉/运动缺陷。