Isumi H, Takashima S, Kakita A, Yamada M, Ikeda K, Mizuguchi M
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience; National Center of Neurology and Psychiatry; Tokyo, Japan.
Pediatr Neurol. 1997 Jan;16(1):42-4. doi: 10.1016/s0887-8994(96)00260-3.
Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS phenotype. The LIS-1 protein was present abundantly and ubiquitously in normally developing brains. Loss of LIS-1 immunoreactivity was observed in brains with MDS, but not in brains with other malformations, such as isolated lissencephaly, holoprosencephaly, Fukuyama-type congenital muscular dystrophy, and Zellweger syndrome. These results suggest that the pathomechanism underlying abnormal neuronal migration in MDS may be specific to this particular type of malformation.
米勒-迪克尔综合征（MDS）是一种以神经元迁移异常为特征的脑畸形原型。为了阐明这些异常背后的发病机制，我们使用针对LIS-1蛋白产物的特异性抗体进行了免疫组织化学研究，LIS-1是导致MDS表型的候选基因。LIS-1蛋白在正常发育的大脑中大量且普遍存在。在患有MDS的大脑中观察到LIS-1免疫反应性缺失，但在患有其他畸形的大脑中未观察到，如孤立性无脑回畸形、前脑无裂畸形、福山型先天性肌营养不良和泽尔韦格综合征。这些结果表明，MDS中神经元迁移异常背后的发病机制可能是这种特定类型畸形所特有的。
