Chinese herbal medicine formula SYM prevents brain calcification in a murine model of IBGC

OBJECTIVE To establish Idiopathic basal ganglia calcification(IBGC′s)disease model in mouse,and investigate the effect of Chinese herbal medicine formula SYM to prevent brain calcification caused by SLC20A2 mutations.METHODS In order to apply the IBGC model in mice,we introduced S602 W point mutation into the mouse Slc20a2.Mice(3months old)with homozygous mutation developed brain calcification as similar as IBGC in human.The SYM decoction was diluted and added into the drinking water of 2-week-old homozygous Slc20a2 KI mice for 5months.Another group of homozygous Slc20a2 KI mice were set as control and received no treatment.After 5months,to analyze the effect of the SYM decoction on brain calcification,pathological sections with the brain of Slc20a2 KI mice were made and stained.RESULTS Calcified nodules were not seen in the brain of Slc20a2 KI mice that received SYM decoction treatment,while the control group developed multiple calcifications in the thalamus region.CONCLUSION SYM decoction produced preventive effect on the formation of calcified nodules in IBGC model mice,which might be useful for the treatment of IBGC caused by SLC20A2 mutations.

特发性基底节钙化致病的分子机制

特发性基底节钙化(Idiopathic basal ganglia calcification,IBGC)俗称Fahr病,是一种以基底节及大脑其他部位钙化为特征的神经系统遗传疾病,患者可出现运动障碍及认知、精神异常,目前尚无有效治疗药物。该病具有遗传异质性,自2012年本课题组发现第一个致病基因SLC20A2以来,现今又发现4个该病的致病基因:PDGFRB,PDGFB,ISG15和XPR1,初步将IBGC的发生机制分别与大脑局部无机磷稳态失衡、血脑屏障功能障碍及IFN-α/β免疫信号过度放大联系起来。文章综述了IBGC的遗传学研究进展,初步探讨了不同基因导致IBGC的分子机理。