M. Vainzof et al., Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?, GENET TEST, 4(4), 2000, pp. 383-386
Malignant hyperthermia (MH) and central core disease (CCD) are two conditio
ns associated with susceptibility to volatile anesthetics and depolarizing
muscle relaxants. The gene RYR1, encoding the Ca2+ release channel of skele
tal muscle sarcoplasmic reticulum, is responsible for about 50% of the case
s 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 Fr
ench 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 unrelat
ed patients affected by CCD and 31 MH-susceptible relatives (from 19 MH fam
ilies) and did not find this mutation in any of them, Nevertheless, the rep
ort of data on newly described mutations in different populations is import
ant to estimate the contributions of each gene mutation to the phenotype of
MH and CCD.