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睡眠障碍的遗传学

The genetics of sleep disorders.

作者信息

Taheri S

机构信息

Henry Wellcome Laboratories for Integrative Neuroscience and Endocrinology (LINE), Dorothy Hodgkin Building, Whitson Street, University of Bristol, Bristol BS1 3NY, UK.

出版信息

Minerva Med. 2004 Jun;95(3):203-12.

Abstract

Most sleep disorders result from complex interactions between genes and the environment. Modern molecular techniques are increasingly applied to determine the contribution of genes to sleep and its disorders. The genetic basis of circadian rhythms has been explored using Drosophila and rodent models. This culminated in the identification of the molecular basis of one autosomal dominant form of familial advanced sleep phase syndrome: mutations in the human period 2 gene. Genetic studies in an autosomal recessive canine model of narcolepsy and in gene-targeted mice have identified the hypothalamic hypocretin (orexin) neuropeptide system as a key target for human narcolepsy. In this case, animal models have provided important clues to a human disorder with complex genetics. The study of the role of genes in the obstructive sleep apnoea syndrome is likely to provide important clues to a phenotype associated with respiratory, cardiovascular, and metabolic dysfunction. This brief review will present the role of genetic factors in the obstructive sleep apnoea syndrome, restless leg syndrome, narcolepsy, and circadian rhythm disorders.

摘要

大多数睡眠障碍是由基因与环境之间的复杂相互作用引起的。现代分子技术越来越多地被用于确定基因对睡眠及其障碍的影响。昼夜节律的遗传基础已通过果蝇和啮齿动物模型进行了探索。这最终导致了一种常染色体显性形式的家族性早睡综合征分子基础的确定:人类周期2基因的突变。在发作性睡病的常染色体隐性犬模型和基因靶向小鼠中的遗传学研究已经确定下丘脑促食欲素(食欲素)神经肽系统是人类发作性睡病的关键靶点。在这种情况下,动物模型为具有复杂遗传学的人类疾病提供了重要线索。对基因在阻塞性睡眠呼吸暂停综合征中的作用的研究可能会为与呼吸、心血管和代谢功能障碍相关的表型提供重要线索。这篇简短的综述将阐述遗传因素在阻塞性睡眠呼吸暂停综合征、不宁腿综合征、发作性睡病和昼夜节律障碍中的作用。

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