Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

ABSTRACT:

Background

. Missense variants in the ryanodine receptor 1 gene ( RYR1 ) are associated with malignant hyperthermia but only a minority of these have met the criteria for use in predictive DNA diagnosis. We examined the utility of a simplified method of segregation analysis and a functional assay for determining the pathogenicity of recurrent RYR1 variants associated with malignant hyperthermia.

Methods

. We identified previously uncharacterised RYR1 variants found in four or more malignant hyperthermia families and conducted simplified segregation analyses. An efficient cloning and mutagenesis strategy was used to express ryanodine receptor protein containing one of six RYR1 variants in HEK293 cells. Caffeine-induced calcium release, measured using a fluorescent calcium ind

SUBMITTER: Merritt A 

PROVIDER: S-EPMC6906626 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature