TY - JOUR
T1 - The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy
AU - Bonifati, D. M.
AU - Witchel, S. F.
AU - Ermani, M.
AU - Hoffman, E. P.
AU - Angelini, C.
AU - Pegoraro, E.
PY - 2006/10
Y1 - 2006/10
N2 - 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.
AB - 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.
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U2 - 10.1136/jnnp.2005.078345
DO - 10.1136/jnnp.2005.078345
M3 - Article
C2 - 16980656
AN - SCOPUS:33748989029
VL - 77
SP - 1177
EP - 1179
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 10
ER -