Ryanodine受体突变和恶性高热的研究进展  

An Advance in the study of ryanodine receptor mutations and malignant hyperthermia

作　　者：房玲玲[1] 周海燕[1] 

机构地区：[1]浙江大学医学院附属第二医院麻醉科,杭州310009

出　　处：《国际麻醉学与复苏杂志》2007年第6期532-535,共4页International Journal of Anesthesiology and Resuscitation

摘　　要：恶性高热是一种潜在致命性的常染色体遗传药理性疾病。研究发现RyR_1基因异常是大部分恶性高热发生的分子生物学基础。随着细胞生物学、分子生物学等技术的进步,对RyR_1的结构、功能及其突变致病机制的认识有了许多新的进展。此综述将围绕这几个方面作一阐述。Malignant hyperthermia is a potentially lethal pharmacogenetic disease. Recent evidence demonstrates that mutations in the RyR1 gene are the molecular biologic basis of this disease. With the development of technique in cell biology and molecular biology, great progress in research of the structure ,function and pathogenic mechanism of ryanodine receptor 1 has been made. These aspects are reviewed in this article.

关 键 词：恶性高热 RYANODINE 受体1(RyR1 ) 机制 

分 类 号：R614[医药卫生—麻醉学]