Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome

Forensic Science International

Volumn 194, Issue 1-3, 2010, Pages 77-79

  Sato, Takako ^a   Nishio, Hajime ^a   Iwata, Misa ^a   KentoTsuboi, ^a   Tamura, Akiyoshi ^a   Miyazaki, Tokiko ^a   Suzuki, Koichi ^a  

^a OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

Malignant hyperthermia; Molecular autopsy; Neuroleptic malignant syndrome; Ryanodine receptor type 1

Indexed keywords

ALANINE; ARGININE; CHLORPROMAZINE; ESTAZOLAM; FLUNITRAZEPAM; GLUTAMINE; HALOPERIDOL; LEVOMEPROMAZINE; LITHIUM CARBONATE; OLANZAPINE; RYANODINE RECEPTOR 1; SULPIRIDE; THREONINE;

ADULT; ARTICLE; AUTOPSY; BODY TEMPERATURE MEASUREMENT; CAUSE OF DEATH; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FORENSIC PSYCHIATRY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; MALE; MENTAL PATIENT; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NEUROLEPTIC MALIGNANT SYNDROME; PRIORITY JOURNAL; PROTEIN ANALYSIS; SCHIZOPHRENIA;

EID: 72149094850     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2009.10.014     Document Type: Article

References (16)

1. Gurrera R.J., Chang S.S., and Romero J.A. A comparison of diagnostic criteria for neuroleptic malignant syndrome. J. Clin. Psychiatry 53 (1992) 56-62
2. Andreassen M.D., and Pedersen S. Malignant neuroleptic syndrome, a review of epidemiology, risk factors, diagnosis, differential diagnosis and pathogenesis of MNS. Ugeskr. Laeger 162 (2000) 1366-1370
3. Nelson T.E., and Flewellen E.H. The malignant hyperthermia syndrome. N. Engl. J. Med. 309 (1983) 416-418
4. Nelson T.E. Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulation proteins. Curr. Mol. Med. 2 (2002) 347-369
5. Jurkat-Rott K., McCarthy T., and Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 23 (2000) 4-17
6. McCarthy T.V., Quane K.A., and Lynch P.J. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum. Mutat. 15 (2000) 410-417
7. Ibarra M.C.A., Wu S., Murayama K., Minami N., Ichihara Y., Kikuchi H., Noguchi S., Hayashi Y.K., Ochiai R., and Nishino I. Malignant hyperthermia in Japan. Anesthesiology 104 (2006) 1146-1154
8. Gurrera R.J. Is neuroleptic malignant syndrome a neurogenic form of malignant hyperthermia?. Clin. Neuropharmacol. 25 (2002) 183-193
9. Miyatake R., Iwahashi K., Matsushita M., Nakamura K., and Suwaki H. No association between the neuroleptic malignant syndrome and mutations in the RYR1 gene associated malignant hyperthermia. J. Neurol. Sci. 143 (1996) 161-165
10. Treves S., Anderson A.A., Ducreux S., Divet A., Bleunven C., Grasso C., Paesante S., and Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul. Disord. 15 (2005) 577-587
11. Nishio H., and Suzuki K. Three cases of suspected hyperthermia with remarkable elevation of serum mast cell tryptase. Forensic Sci. Int. 149 (2005) 51-55
12. Lowe J.W. The obscure autopsy and neuroleptic malignant syndrome. Med. Sci. Law 37 (1997) 78-81
13. Christiansen L.R., and Collins K.A. Pathologic findings in malignant hyperthermia: a case report and review of literature. Am. J. Forensic Med. Pathol. 25 (2004) 327-333
14. Caroff S.N., and Mann S.C. Neuroleptic malignant syndrome. Med. Clin. North Am. 77 (1993) 185-202
15. Gillard E.F., Otsu K., Fujii J., Khanna V.K., de Leon S., Derdemezi J., Britt B.A., Duff C.L., Worton R.G., and MacLennan D.H. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11 (1991) 751-755
16. 2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J. Biol. Chem. 269 (1994) 9413-9415