Department of Biomedical Physiology and Kinesiology; Simon Fraser University; Burnaby, BC, Canada.
Channels (Austin). 2012 Mar-Apr;6(2):75-85. doi: 10.4161/chan.19827. Epub 2012 Mar 1.
Perturbations to body temperature affect almost all cellular processes and, within certain limits, results in minimal effects on overall physiology. Genetic mutations to ion channels, or channelopathies, can shift the fine homeostatic balance resulting in a decreased threshold to temperature induced disturbances. This review summarizes the functional consequences of currently identified voltage-gated sodium (NaV) channelopathies that lead to disorders with a temperature sensitive phenotype. A comprehensive knowledge of the relationships between genotype and environment is not only important for understanding the etiology of disease, but also for developing safe and effective treatment paradigms.
体温的变化几乎会影响所有细胞过程,在一定范围内,对整体生理机能的影响最小。离子通道的基因突变,或通道病,会打破精细的体内平衡,导致对温度引起的干扰的阈值降低。本综述总结了目前已鉴定的电压门控钠 (NaV) 通道病导致具有温度敏感表型的疾病的功能后果。全面了解基因型与环境之间的关系不仅对了解疾病的病因很重要,而且对开发安全有效的治疗方案也很重要。