Abstract
We studied the expression of tuberin, the TSC2 gene product, in cerebra with or without tuberous sclerosis. Tuberin was abundant in the gray matter of normal cerebra, but was undetectable in the subependymal astrocytomas from 3 patients with tuberous sclerosis. In 1 patient, cortical tubers and normally appearing cortical tissue also showed a marked loss of tuberin. These results indicate the critical role of tuberin in the neuropathology of tuberous sclerosis.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Astrocytoma / genetics*
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Astrocytoma / metabolism*
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Astrocytoma / pathology
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Brain Neoplasms / genetics*
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Brain Neoplasms / metabolism*
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Brain Neoplasms / pathology
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Child
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Female
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Gene Expression
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Humans
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Repressor Proteins / genetics*
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Repressor Proteins / metabolism*
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Tuberous Sclerosis / genetics*
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Tuberous Sclerosis / metabolism*
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Tuberous Sclerosis / pathology
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins
Substances
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Repressor Proteins
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TSC2 protein, human
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins