Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome |
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Authors: | Anca Ram Qiuhe Cao Paul E Keck Harrison G Pope Koichi Otani Gerard Addonizio Susan L McElroy Sunao Kaneko Michaela Redlichova Elliot S Gershon Pablo V Gejman |
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Institution: | Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland |
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Abstract: | Dysfunction of the dopaminergic system has been suggested as a pathogenic mechanism in neuroleptic malignant syndrome. Therefore, we examined the complete coding sequences of the dopamine D2 receptor (DRD2) gene for structural abnormalities in 12 patients with a history of NMS, including two cases of familial NMS. Mutational analysis was performed by denaturing gradient gel electrophoresis (DGGE), a highly sensitive technique for detecting sequence differences. We found in one patient with a history of NMS a nucleotide substitution at codon 310 (CCG→TCG) of exon 7 of the DRD2 gene which predicts the replacement of proline to serine in the third cytoplasmic loop of the receptor, a part of the receptor that interacts with G-proteins. A larger series of patients with NMS needs to be investigated to establish whether this allele is associated with an increased susceptibility to NMS. © 1995 Wiley-Liss, Inc. |
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Keywords: | dopamine D2 receptor gene neuroleptic malignant syndrome antipsychotic drugs mutational analysis |
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