Kuzelova Hana, Ptacek Radek, Macek Milan
Institute of Biology and Medical Genetics, 2nd School of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.
Neuro Endocrinol Lett. 2010;31(1):4-10.
Both serotonin and the serotonin transporter, which transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons, play an important role in the pathophysiology of several psychiatric disorders. Mutations associated with the serotonin transporter gene may result in changes in serotonin transporter function. The serotonin transporter gene promoter variant, consisting of a long (L) and a short (S) variant, is one of the major factors which contribute to the etiology of many psychiatric disorders. In this regard, many studies have been published on association of this variant with various psychiatric disorders. This repeat length variant in the promoter region of this gene has been shown to affect the rate of serotonin uptake and may play a role in post-traumatic stress disorder and depression-susceptibility in people experiencing emotional trauma. Associations between a functional variant in the serotonin transporter anxiety-related personality traits were found, as well as the risk of developing depression, alcoholism or suicidal behavior. Understanding of possible associations of these variants and psychiatric disorders would bring progress in principles and treatment of many disorders.
血清素以及将神经递质血清素从突触间隙转运到突触前神经元的血清素转运体,在几种精神疾病的病理生理学中都起着重要作用。与血清素转运体基因相关的突变可能导致血清素转运体功能的改变。血清素转运体基因启动子变体由一个长(L)变体和一个短(S)变体组成,是导致许多精神疾病病因的主要因素之一。在这方面,已经发表了许多关于该变体与各种精神疾病关联的研究。该基因启动子区域的这种重复长度变体已被证明会影响血清素摄取率,并可能在经历情感创伤的人群的创伤后应激障碍和抑郁易感性中起作用。还发现血清素转运体功能性变体与焦虑相关人格特质之间存在关联,以及与患抑郁症、酗酒或自杀行为的风险之间存在关联。了解这些变体与精神疾病之间的可能关联将为许多疾病的原理和治疗带来进展。