NDLI: Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

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Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse

Content Provider	PubMed Central
Author	Way, Sharon W. Mckenna, James Ulrike, Mietzsch Reith, R. Michelle Wu, Henry Cheng-ju Gambello, Michael J.
Copyright Year	2009
Abstract	Tuberous sclerosis complex (TSC) is an autosomal dominant, tumor predisposition disorder characterized by significant neurodevelopmental brain lesions, such as tubers and subependymal nodules. The neuropathology of TSC is often associated with seizures and intellectual disability. To learn about the developmental perturbations that lead to these brain lesions, we created a mouse model that selectively deletes the Tsc2 gene from radial glial progenitor cells in the developing cerebral cortex and hippocampus. These Tsc2 mutant mice were severely runted, developed post-natal megalencephaly and died between 3 and 4 weeks of age. Analysis of brain pathology demonstrated cortical and hippocampal lamination defects, hippocampal heterotopias, enlarged dysplastic neurons and glia, abnormal myelination and an astrocytosis. These histologic abnormalities were accompanied by activation of the mTORC1 pathway as assessed by increased phosphorylated S6 in brain lysates and tissue sections. Developmental analysis demonstrated that loss of Tsc2 increased the subventricular Tbr2-positive basal cell progenitor pool at the expense of early born Tbr1-positive post-mitotic neurons. These results establish the novel concept that loss of function of Tsc2 in radial glial progenitors is one initiating event in the development of TSC brain lesions as well as underscore the importance of Tsc2 in the regulation of neural progenitor pools. Given the similarities between the mouse and the human TSC lesions, this model will be useful in further understanding TSC brain pathophysiology, testing potential therapies and identifying other genetic pathways that are altered in TSC.
Related Links	http://dx.doi.org/10.1093/hmg/ddp025
Ending Page	1265
Page Count	14
Starting Page	1252
File Format	PDF
ISSN	09646906
e-ISSN	14602083
Journal	Human Molecular Genetics
Issue Number	7
Volume Number	18
Language	English
Publisher	Oxford University Press
Publisher Date	2009-01-01
Access Restriction	Open
Rights Holder	Oxford University Press
Subject Keyword	Genetics(clinical) Genetics Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Genetics (clinical)

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Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse