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Cellular and Molecular Neurobiology

, Volume 25, Issue 5, pp 795–806 | Cite as

Giant Cells: Contradiction to Two-Hit Model of Tuber Formation?

  • Jaroslaw Jozwiak
  • Sergiusz Jozwiak
Article

Summary

  1. 1.

    Tuberous sclerosis (TSC) is an autosomal dominant disease characterized by the formation of hamartomatous lesions in many organs, including brain, heart or kidneys. It has been found that TSC is caused by the mutation in one of two tumor suppressor genes: TSC1 or TSC2, encoding hamartin and tuberin, respectively.

     
  2. 2.

    According to Knudson’s two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity (LOH) of a tumor suppressor gene is necessary for tumor formation. In fact, LOH is commonly found in several types of hamartomas formed in the process of tuberous sclerosis, but, interestingly, not in brain lesions, containing characteristic giant cells.

     
  3. 3.

    In the present paper we review literature covering origination of giant cells and present several hypotheses explaining why in spite of the presence of hamartin and tuberin, brain lesions form in TSC patients.

     

Keywords

giant cells loss of heterozygosity SEGA 

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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  1. 1.Department of Histology and Embryology, Center for Biostructure ResearchMedical University of WarsawWarsawPoland
  2. 2.Department of Pediatric NeurologyChildren’s Memorial HospitalWarsawPoland
  3. 3.To whom correspondence should be addressed at Department of Histology and Embryology, Center for Biostructure ResearchMedical University of WarsawWarsawPoland

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