Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma

Authors

  • Dr. Masashi Mizuguchi MD,

    Corresponding author
    1. Department of Pediatrics, Jichi Medical School, Tochigi, Japan
    2. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • Department of Pediatrics, Jichi Medical School, 3, 311-1 Yakushiji, Minamikawachi, Kawachi-gun. Tochigi 329-04, Japan
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  • Mitsuhiro Kato MD,

    1. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
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  • Hideo Yamanouchi MD,

    1. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
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  • Kazuhiko Ikeda MD,

    1. Department of Ultrastructure and Histochemistry, Tokyo Institute of Psychiatry, Tokyo, Japan
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  • Sachio Takashima MD

    1. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan
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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.

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