Stowell Kathryn M
Institute of Molecular Biosciences, Massey University, Palmerston North, New Zealand.
Pharmacogenomics. 2008 Nov;9(11):1657-72. doi: 10.2217/14622416.9.11.1657.
Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by volatile anesthetics or depolarizing muscle relaxants in predisposed individuals. Exercise or stress-induced MH episodes, in the absence of any obvious pharmacological trigger, have been reported, but these are rare. A considerable effort has taken place over the last two decades to identify mutations associated with MH and characterize their functional effects. A number of different, but complementary systems, have been developed and implemented to this end. The results of such studies have identified commonalities in functional affects of mutations, and also uncovered unexpected complexities in both the structure and function of the skeletal muscle calcium-release channel. The following review is an attempt to provide a summary of the background to current MH research, and highlight some recent advances in our knowledge of the molecular basis of the phenotypic expression of this disorder.
恶性高热（MH）是一种遗传性疾病，在易感个体中由挥发性麻醉剂或去极化肌松药引发。有报道称，在没有任何明显药理学触发因素的情况下，运动或应激可诱发MH发作，但这种情况很罕见。在过去二十年中，人们付出了巨大努力来识别与MH相关的突变并表征其功能影响。为此，已经开发并实施了许多不同但互补的系统。这些研究结果确定了突变功能影响的共性，同时也揭示了骨骼肌钙释放通道在结构和功能方面意想不到的复杂性。以下综述旨在总结当前MH研究的背景，并强调我们对该疾病表型表达分子基础认识的一些最新进展。
