Androgen receptor mutation in Kennedy'sdisease

Kennedy'sdisease is an X-linked form of motor neuron disease caused by an expanded polyglutamine repeat in the androgen receptor. While the expansion mutation causes some loss of transcriptional activity by the androgen receptor, the predominant effect of expansion is probably a toxic gain of f...

Full description

Saved in:
Bibliographic Details
Published inPhilosophical transactions of the Royal Society of London. Series B. Biological sciences Vol. 354; no. 1386; pp. 1075 - 1078
Main Authors Fischbeck, Kenneth H., Lieberman, Andrew, Bailey, Christine K., Abel, Annette, Merry, Diane E.
Format Journal Article
LanguageEnglish
Published The Royal Society 29.06.1999
Subjects
Androgen Receptor
Motor Neuron Disease
Polyglutamine Disease
Online AccessGet full text

Cover

More Information
Summary:Kennedy'sdisease is an X-linked form of motor neuron disease caused by an expanded polyglutamine repeat in the androgen receptor. While the expansion mutation causes some loss of transcriptional activity by the androgen receptor, the predominant effect of expansion is probably a toxic gain of function, similar to the mechanism of other polyglutamine expansion diseases. Features of the neurodegenerative phenotype of Kennedy'sdisease have now been reproduced in transgenic animals and neuronal cell culture. Nuclear inclusions of mutant androgen receptor protein are found in these model systems and in autopsy samples from patients with Kennedy'sdisease.
Bibliography:istex:F832B9BBB153433D395F92DCEDAAEFCD58DC6568
ark:/67375/V84-73XKLFS2-Z
Discussion Meeting Issue 'Glutamine repeats and neurodegenerative diseases: molecular aspects' organized by M. F. Perutz, P. S. Harper and M. A. Ferguson-Smith
ISSN:0962-8436
1471-2970
DOI:10.1098/rstb.1999.0461