A novel migration-related gene product, doublecortin, in neuronal migration disorder of fetuses and infants with Zellweger syndrome.
Immunohistochemical expression of doublecortin (DCX), KIAA0369 (KIA) and LIS1 proteins as well as nestin and vimentin in the cerebral cortices of six patients with Zellweger syndrome (ZS), aged 19 gestational weeks (GW) to 8 months, was compared with that in nine controls, aged 12 GW to 8 months. DCX immunoreactivity was apparently reduced in ZS, particularly in the cortical plate of fetuses, and in the subependymal foci of heterotopic neurons of the infants. Reduced expression of DCX in ZS was confirmed by Western blot analysis. On the other hand, neuronal expression of nestin was high in the cortical plate, migrating cells of the white matter and germinal cells in the ventricular zone in fetuses with ZS. Immunoreactivities for KIA, LIS1 and vimentin in ZS were comparable to those of controls. Reduced expression of DCX may be responsible for the neuronal migration disorder, and increased expression of nestin may be another evidence for delayed neuronal maturation in ZS.
Qin
J
J
Department of Mental Retardation, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Mizuguchi
M
M
Itoh
M
M
Takashima
S
S
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D015153:Blotting, Western; D001927:Brain Diseases / Q000196:embryology*; D017871:Calcium-Calmodulin-Dependent Protein Kinases / Q000378:metabolism; D002465:Cell Movement / Q000502:physiology; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D000089742:Doublecortin-Like Kinases; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D009419:Nerve Tissue Proteins; D009474:Neurons / Q000502:physiology*; D009479:Neuropeptides / Q000378:metabolism* / Q000502:physiology; D017346:Protein Serine-Threonine Kinases; D013194:Staining and Labeling; D015211:Zellweger Syndrome / Q000378:metabolism*
C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D047908:Intracellular Signaling Peptides and Proteins; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C117347:DCLK1 protein, human; D000089742:Doublecortin-Like Kinases; D017346:Protein Serine-Threonine Kinases; D017871:Calcium-Calmodulin-Dependent Protein Kinases; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human