Effect of the Kennedy Mutation of the Androgen Receptor on Gene Expression in Neuroblastoma Cells

  • P. A. Yerramilli-Rao
  • O. Garofalo
  • P. N. Leigh
  • J.-M. Gallo
Part of the GWUMC Department of Biochemistry and Molecular Biology Annual Spring Symposia book series (GWUN)

Abstract

Kennedy’s syndrome (X-linked bulbar and spinal muscular atrophy) is an X-linked disorder characterised by sensory and lower motor neurone degeneration.1,2,3 The discovery of a mutation in the androgen receptor (AR) gene in Kennedy’s syndrome reinforced the hypothesis that an X-linked factor might be involved in the disease process of Amyotrophic Lateral Sclerosis (ALS), because of the prevalence of the disease in males, (ratio 1.6:1). This mutation, which is tightly linked with the disease phenotype, consists of an increased number of CAG repeats present in the first exon of the AR gene, encoding a polyglutamine chain.

Keywords

Amyotrophic Lateral Sclerosis Androgen Receptor Spinal Muscular Atrophy Differential Display Motor Neurone 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • P. A. Yerramilli-Rao
    • 1
  • O. Garofalo
    • 1
  • P. N. Leigh
    • 1
  • J.-M. Gallo
    • 1
  1. 1.Departments of NeurologyInstitute of PsychiatryLondonUK

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