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Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma
Author(s) -
Mizuguchi Masashi,
Kato Mitsuhiro,
Yamanouchi Hideo,
Ikeda Kazuhiko,
Takashima Sachio
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400621
Subject(s) - tuberous sclerosis , astrocytoma , medicine , pathology , tsc2 , glioblastoma , biology , cancer research , genetics , apoptosis , pi3k/akt/mtor pathway
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.