Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals.
Hum Mol Genet
; 26(6): 1173-1181, 2017 03 15.
Article
en En
| MEDLINE
| ID: mdl-28158406
ABSTRACT
Although periventricular nodular heterotopia (PNH) is often found in the cerebral cortex of people with thanatophoric dysplasia (TD), the pathophysiology of PNH in TD is largely unknown. This is mainly because of difficulties in obtaining brain samples of TD patients and a lack of appropriate animal models for analyzing the pathophysiology of PNH in TD. Here we investigate the pathophysiological mechanisms of PNH in the cerebral cortex of TD by utilizing a ferret TD model which we recently developed. To make TD ferrets, we electroporated fibroblast growth factor 8 (FGF8) into the cerebral cortex of ferrets. Our immunohistochemical analyses showed that PNH nodules in the cerebral cortex of TD ferrets were mostly composed of cortical neurons, including upper layer neurons and GABAergic neurons. We also found disorganizations of radial glial fibers and of the ventricular lining in the TD ferret cortex, indicating that PNH may result from defects in radial migration of cortical neurons along radial glial fibers during development. Our findings provide novel mechanistic insights into the pathogenesis of PNH in TD.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Displasia Tanatofórica
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Corteza Cerebral
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Factor 8 de Crecimiento de Fibroblastos
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Heterotopia Nodular Periventricular
Tipo de estudio:
Etiology_studies
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Prognostic_studies
Límite:
Animals
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Humans
Idioma:
En
Año:
2017
Tipo del documento:
Article