title: Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome.
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 sequences 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.
authors.affiliation: Clinical Neurogenetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: A
authors.initials: A
authors.lastname: Ram
authors.forename: Q
authors.initials: Q
authors.lastname: Cao
authors.forename: P E
authors.initials: PE
authors.lastname: Keck
authors.forename: H G
authors.initials: HG
authors.lastname: Pope
authors.forename: K
authors.initials: K
authors.lastname: Otani
authors.forename: G
authors.initials: G
authors.lastname: Addonizio
authors.forename: S L
authors.initials: SL
authors.lastname: McElroy
authors.forename: S
authors.initials: S
authors.lastname: Kaneko
authors.forename: M
authors.initials: M
authors.lastname: Redlichova
authors.forename: E S
authors.initials: ES
authors.lastname: Gershon
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009459:Neuroleptic Malignant Syndrome / Q000235:genetics* / Q000378:metabolism; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D017448:Receptors, Dopamine D2