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

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.