September 1, 2001Cardiovascular ResearchOpen Access

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

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Population

Xenopus laevis oocytes expressing cRNA of eight distinct Jervell and Lange-Nielsen syndrome mutations in…

Comparison

Expression of mutant cRNA vs Wild-type proteins and varying injection ratios

Design

Preclinical

Authors

Discussion

JLNS mutation effects vary functionally; hypothesis-generating for genotype-phenotype links but should not yet change practice.

Population

Xenopus laevis oocytes expressing cRNA of eight distinct Jervell and Lange-Nielsen syndrome (JLNS) mutations in KCNQ1 and KCNE1 genes

Intervention

Expression of mutant cRNA (KCNE1 T59P/L60P, KCNQ1 E261D, R243H, 572-576del, 1008delC, R518X, Q530X, R594Q)

Comparator

Wild-type proteins and varying injection ratios (1:3 vs 1:1)

Outcome

Electrophysiological effects (dominant-negative effect, loss of function, steady-state activation curve, deactivation rate)surrogate

JLNS-causing mutations exhibit a spectrum of functional behaviors ranging from simple loss of function to prominent dominant-negative effects.

Linda Huang (2001) studied this question.

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