Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma.
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.
Mizuguchi
M
M
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Kato
M
M
Yamanouchi
H
H
Ikeda
K
K
Takashima
S
S
D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D001932:Brain Neoplasms / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D002648:Child; D005260:Female; D015870:Gene Expression; D006801:Humans; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism*; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins