The role of CACNA1S in predisposition to malignant hyperthermia.

ABSTRACT:

Background

Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the alpha1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK.

Methods

We investigate the CACNA1S locus in detail in 50 independent MH patients, the largest study to date, to identify novel variants that may predispose to disease and also to characterise the haplotype structure across CACNA1S.

Results

We present CACNA1S cDNA sequenc

SUBMITTER: Carpenter D 

PROVIDER: S-EPMC2770053 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature