Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues

David H. Gutmann, Yujing Zhang, M. Josh Hasbani, Mark P. Goldberg, Tracey L. Plank, Elizabeth Petri Henske

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

Tuberous sclerosis complex (TSC) is a common genetic disorder in which affected individuals can develop mental retardation, developmental brain defects, and seizures. Two genetic loci are responsible for TSC: TSC1 on chromosome 9q and TSC2 on chromosome 16p. Here, we report our analysis of TSC1 (hamartin) and TSC2 (tuberin) protein expression in the central nervous system (CNS). Both tuberin and hamartin are expressed in neurons and astrocytes where they physically interact. In the mouse cerebellum in vivo, tuberin predominantly localizes to the perinuclear region of the Purkinje cell, whereas hamartin is distributed along neuronal or astrocytic processes. In contrast, both hamartin and tuberin demonstrate similar neuronal expression patterns in pure neuronal cultures in vitro. Additionally, hamartin is highly expressed in astrocytes in mixed neuron-glia cultures in vitro, suggesting that hamartin may be important for astrocyte growth control. Unlike tuberin, loss of hamartin expression was not observed in sporadic astrocytomas. These results suggest that tuberin and hamartin may differentially contribute to the CNS pathology in TSC.

Original languageEnglish (US)
Pages (from-to)223-230
Number of pages8
JournalActa Neuropathologica
Volume99
Issue number3
StatePublished - Mar 2000

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Nerve Tissue
Tuberous Sclerosis
Central Nervous System
Genes
Astrocytes
Chromosomes
Neurons
Inborn Genetic Diseases
Genetic Loci
tuberous sclerosis complex 1 protein
tuberous sclerosis complex 2 protein
Purkinje Cells
Astrocytoma
Neuroglia
Intellectual Disability
Cerebellum
Seizures
Pathology
Brain
Growth

Keywords

  • Astrocytes
  • Astrocytomas
  • Brain
  • Glia
  • Neurons

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. / Gutmann, David H.; Zhang, Yujing; Hasbani, M. Josh; Goldberg, Mark P.; Plank, Tracey L.; Henske, Elizabeth Petri.

In: Acta Neuropathologica, Vol. 99, No. 3, 03.2000, p. 223-230.

Research output: Contribution to journalArticle

Gutmann, David H. ; Zhang, Yujing ; Hasbani, M. Josh ; Goldberg, Mark P. ; Plank, Tracey L. ; Henske, Elizabeth Petri. / Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. In: Acta Neuropathologica. 2000 ; Vol. 99, No. 3. pp. 223-230.
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