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Neuropediatrics 1994; 25(6): 323-324
DOI: 10.1055/s-2008-1073047
Short communication

© Georg Thieme Verlag KG Stuttgart · New York

Rett Syndrome: The bcl-2 Gene - A Mediator of Neurotrophic Mechanisms?

M.  Anvret1 , Z. P. Zhang1 , B.  Hagberg2
  • 1Department of Clinical Genetics, Karolinska Hospital, Stockholm
  • 2Department ot Paediatrics, East Hospital, Göteborg, Sweden
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process.

No sequence abnormalities were detected in the bcl-2 gene of 6 patients with Rett syndrome which could explain the pathophysiology of Rett syndrome.

Key words

Rett syndrome - bcl-2 - Apoptosis

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