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Provedor de dados:  BJMBR
País:  Brazil
Título:  Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene
Autores:  Matos,A.R.
Sambuughin,N.
Rumjanek,F.D.
Amoedo,N.D.
Cunha,L.B.P.
Zapata-Sudo,G.
Sudo,R.T.
Data:  2009-12-01
Ano:  2009
Palavras-chave:  Malignant hyperthermia
Mutation
Ryanodine receptor
Calcium channel
Resumo:  Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an important functional and conserved locus of this gene, the transmembrane region of RyR1. In this family, 2 MH-susceptible individuals previously diagnosed with CHCT carry this novel mutation and another 24 not previously diagnosed members also carry it. However, this same mutation was not found in another MH-susceptible individual whose CHCT was positive to the test with caffeine but not to the test with halothane. None of the 5 MH normal individuals of the family, previously diagnosed by CHCT, carry this mutation, nor do 100 controls from control Brazilian and USA populations. The Gly4932Ser variant is a candidate mutation for MH, based on its co-segregation with disease phenotype, absence among controls and its location within the protein.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200016
Editor:  Associação Brasileira de Divulgação Científica
Relação:  10.1590/S0100-879X2009007500011
Formato:  text/html
Fonte:  Brazilian Journal of Medical and Biological Research v.42 n.12 2009
Direitos:  info:eu-repo/semantics/openAccess
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