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Mutation analysis of the gene encoding the ryanodine receptor gene isoform 3 (RYR3) in recurrent neuroleptic malignant syndrome
Neuroleptic malignant syndrome (NMS) is a rare and potentially lethal complication of antipsychotic medication (1). The striking symptomatic and pathophysiological similarities with malignant hyperthermia (MH) suggest that NMS might be a neurogenic form of MH. MH can be caused by mutations in the ryanodine receptor (RYR1) gene. The present pilot study tested whether mutations in conserved coding sequences of the brain-expressed RYR3 gene confer vulnerability to NMS (2).
Mutation analysis of the conserved RYR3 sequence motifs revealed no sequence variants that are likely to alter protein structure or gene expression. However, several intronic single nucleotide polymorphisms (SNPs) were identified, including IVS9+98A→G, IVS14–52C→T, IVS16+70T→C, IVS17+16T→C, IVS18+8C→T, and IVS24+55G→A.
1. Fink M. Neuroleptic malignant syndrome and catatonia: one entity or two? Biol Psychiatry 39:1–13. 1996
2. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A et al.. Linkage of neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci 94:587–592. 1997
This work was supported by a grant from the Deutsche Forschungsgemeinschaft (DFG) to OST (Ste769/2–1)