MMACHC Regulates Craniofacial Development

cblC是由MMAHC基因突变引起的多发性先天性异常综合征。cblC是 以钴胺素（维生素B12）代谢缺陷为特征，但轻度至中度颅面畸形 在患者中得到了一致的记录。小鼠Mmachc基因的突变在发育过程中 因此，与cblC相关的颅面缺陷的机制并不完全 明白在这里，我们试图建立一个可行的cblC综合征斑马鱼模型，以了解cblC综合征的发病机制。 MMAHC在面部发育中的作用具体来说，我们将确定面部异常是否存在 在cblC中，与毒性代谢物的积累和钴胺素结合有关。我们的研究 有可能揭示MMACHC在面部发育中潜在的范式转变功能，并将有助于 预防和治疗代谢相关的颅面表型。

cblC is a multiple congenital anomaly syndrome caused by mutations in the MMACHC gene. cblC is characterized by defects in cobalamin (vitamin B12) metabolism, but mild to moderate craniofacial abnormalities have been consistently documented in patients. Mutations in the mouse Mmachc gene are developmentally lethal and therefore, the mechanisms underlying the craniofacial deficits associated with cblC are not completely understood. Here we seek to produce a viable zebrafish model of cblC syndrome with which to understand the function of MMACHC in facial development. Specifically, we will determine whether the facial anomalies present in cblC are associated with the accumulation of toxic metabolites and cobalamin binding. Our studies have the potential to reveal a potentially paradigm shifting function for MMACHC in facial development and will help to prevent and treat metabolically associated craniofacial phenotypes.