Malignant hyperthermia: a pharmacogenetic disorder.
Pharmacogenomics
; 9(11): 1657-72, 2008 Nov.
Article
em En
| MEDLINE
| ID: mdl-19018722
ABSTRACT
Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by volatile anesthetics or depolarizing muscle relaxants in predisposed individuals. Exercise or stress-induced MH episodes, in the absence of any obvious pharmacological trigger, have been reported, but these are rare. A considerable effort has taken place over the last two decades to identify mutations associated with MH and characterize their functional effects. A number of different, but complementary systems, have been developed and implemented to this end. The results of such studies have identified commonalities in functional affects of mutations, and also uncovered unexpected complexities in both the structure and function of the skeletal muscle calcium-release channel. The following review is an attempt to provide a summary of the background to current MH research, and highlight some recent advances in our knowledge of the molecular basis of the phenotypic expression of this disorder.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Farmacogenética
/
Predisposição Genética para Doença
/
Hipertermia Maligna
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Idioma:
En
Revista:
Pharmacogenomics
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Nova Zelândia