rss
J Neurol Neurosurg Psychiatry 2006;77:1177-1179 doi:10.1136/jnnp.2005.078345
  • Paper

The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

  1. D M Bonifati1,
  2. S F Witchel2,
  3. M Ermani1,
  4. E P Hoffman3,
  5. C Angelini1,
  6. E Pegoraro1
  1. 1Department of Neurosciences, University of Padova, Italy
  2. 2Children’s Hospital of Pittsburgh, Division of Pediatric Endocrinology, Pittsburgh, PA, USA
  3. 3Center for Genetic Medicine, Children’s Research Hospital, Washington, DC, USA
  1. Correspondence to:
 Dr E Pegoraro
 Department of Neurosciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy; elena.pegoraro{at}unipd.it
  • Received 12 August 2005
  • Accepted 7 January 2006
  • Revised 23 December 2005

Abstract

Background: Steroid administration is beneficial in Duchenne muscular dystrophy (DMD), but the response, incidence, and the severity of side effects are variable.

Aims: To investigate whether glucocorticoid receptor (GRL) gene polymorphisms may be responsible for glucocorticoid sensitivity in DMD.

Methods: Forty eight DMD patients treated either with prednisone or deflazacort were subjected to genetic analyses of the GRL gene.

Results: Mutation studies revealed an heterozygous A to G mutation at GRL cDNA position 1220 in three DMD patients resulting in an asparagine to serine amino acid change at amino acid position 363 (N363S). The N363S carrier DMD patients showed a trend towards a later age at loss of ambulation in comparison with non-carrier patients.

Conclusions: These data suggest that the N363S GRL polymorphism may be implicated in the long term response to glucocorticoids.

Footnotes

  • See Editorial Commentary, p 1104

  • Competing interests: none.

This Article

  1. Abstract
  2. Full text
  3. PDF

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

BMJ Careers - Latest neurology and neurosurgery jobs