单基因神经疾病中的昼夜节律生物学与睡眠及其在药物研发中的潜在应用
Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery.
作者信息
Shi Shu-Qun, Johnson Carl Hirschie
机构信息
Department of Biological Sciences, Vanderbilt University, USA.
Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, USA.
出版信息
Curr Opin Behav Sci. 2019 Feb;25:23-30. doi: 10.1016/j.cobeha.2018.06.006. Epub 2018 Jul 4.
Sleep disturbances are common in people with monogenic neurological disorders and they dramatically affect the life of individuals with the disorders and their families. The associated sleep problems are probably caused by multiple factors that have not been elucidated. Study of the underlying molecular cause, behavioral phenotypes, and reciprocal interactions in several single-gene disorders (Angelman Syndrome, Fragile X Syndrome, Rett Syndrome, and Huntington's Disease) leads to the suggestion that sleep disruption and other symptoms may directly result from abnormal operation of circadian systems due to genetic alteration and/or conflicting environmental cues for clock entrainment. Therefore, because circadian patterns modify the symptoms of neurological disorders, treatments that modulate our daily rhythms may identify heretofore unappreciated therapies for the underlying disorders.
睡眠障碍在患有单基因神经疾病的人群中很常见，它们会极大地影响患有这些疾病的个体及其家人的生活。相关的睡眠问题可能由多种尚未阐明的因素引起。对几种单基因疾病（天使综合征、脆性X综合征、雷特综合征和亨廷顿舞蹈症）的潜在分子病因、行为表型及相互作用的研究表明，睡眠中断和其他症状可能直接源于由于基因改变和/或与生物钟同步的环境线索冲突导致的昼夜节律系统异常运作。因此，由于昼夜节律模式会改变神经疾病的症状，调节我们日常节律的治疗方法可能会找到针对潜在疾病的此前未被认识到的治疗方法。
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