Expression of the LIS-1 gene product in brain anomalies with a migration disorder

Muller-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. (C) 1997 by Elsevier Science Inc.