title: Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
abstract: Malignant hyperthermia (MH) and central core disease (CCD) are two conditions associated with susceptibility to volatile anesthetics and depolarizing muscle relaxants. The gene RYR1, encoding the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum, is responsible for about 50% of the cases of MH and some cases of CCD. However, genetic heterogeneity occurs in MH and a mutation in a second gene (CACLN1A3), encoding the alpha1-subunit of the dihydropyridine (DHP) channel, has recently been found in a large MH French family. The presence of this mutation in patients with CCD has not yet been reported. In this study, we analyzed the A3333G mutation in 5 unrelated patients affected by CCD and 31 MH-susceptible relatives (from 19 MH families) and did not find this mutation in any of them. Nevertheless, the report of data on newly described mutations in different populations is important to estimate the contributions of each gene mutation to the phenotype of MH and CCD.
authors.affiliation: Center for the Study of the Human Genome, IBUSP, São Paulo, Brazil. mvainzof@usp.br
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: V P
authors.initials: VP
authors.lastname: Muniz
authors.forename: A M
authors.initials: AM
authors.lastname: Tsanaclis
authors.forename: H C
authors.initials: HC
authors.lastname: Silva
authors.forename: M S
authors.initials: MS
authors.lastname: Rusticci
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D009132:Muscles / Q000166:cytology; D009154:Mutation / Q000235:genetics*; D020512:Myopathy, Central Core / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type