Expression of the LIS-1 gene product in brain anomalies with a migration disorder.
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.
Isumi
H
H
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience; National Center of Neurology and Psychiatry; Tokyo, Japan.
Takashima
S
S
Kakita
A
A
Yamada
M
M
Ikeda
K
K
Mizuguchi
M
M
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002465:Cell Movement / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008869:Microtubule-Associated Proteins; D009474:Neurons / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D008869:Microtubule-Associated Proteins; D011506:Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human