Publication: Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis
Authors
Jozwiak, J. ; Jozwiak, S. ; Skopinski, P.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
Tuberous sclerosis (TSC) is an autosomal
dominant disease, caused by mutations in TSC1 or TSC2
genes, encoding hamartin and tuberin, respectively. The
clinical picture of the disease is connected with the
formation of hamartomas, mainly in the heart, kidneys
and the brain. In three types of brain lesions: cortical
tubers, subependymal nodules and subependymal giantcell
astrocytoma (SEGA) characteristic, so-called “giant
cells” are found. In the present review we summarise
immunohistochemical findings of two types of studies
performed on giant cells aiming at establishing the
expression of hamartin and tuberin level and
determining the presence of neuron- or astrocyte-specific
markers. Moreover, we support our argument with the
summary of ultrastructural research done with the
purpose of demonstrating structures characteristic of
neural and/or glial cells. We conclude that giant cells in
cortical tubers and SEGAs are the same undifferentiated
cells that, depending on individual determination, can
show neural or glial features
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