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惊恐障碍患者的去甲肾上腺素转运体基因(NET)变体

Norepinephrine transporter gene (NET) variants in patients with panic disorder.

作者信息

Sand P G, Mori T, Godau C, Stöber G, Flachenecker P, Franke P, Nöthen M M, Fritze J, Maier W, Lesch K-P, Riederer P, Beckmann H, Deckert J

机构信息

Department of Psychiatry, University of Würzburg, Füchsleinstrazze 15, D-97080, Würzburg, Germany.

出版信息

Neurosci Lett. 2002 Nov 15;333(1):41-4. doi: 10.1016/s0304-3940(02)00984-9.

DOI:10.1016/s0304-3940(02)00984-9
PMID:12401556
Abstract

Several lines of evidence suggest that catecholamines, especially norepinephrine, are implicated in the etiology and/or symptomatology of panic disorder (PD). At the cellular level, functional noradrenergic neurotransmission depends on synaptic reuptake of norepinephrine as mediated by the norepinephrine transporter (NET). A pharmacological target of agents with an established anti-panic efficacy, e.g. tricyclic antidepressants, the NET is of particular interest in PD. We investigated the NET gene for the presence of 6 naturally occurring exonic sequence variants, 5 of which give rise to amino acid substitutions (Val69Ile, Thr99Ile, Val245Ile, Val449Ile and Gly478Ser) in a population of 87 patients with PD and 89 healthy controls. Except for a silent substitution (G1287A), overall frequencies of variant alleles were low (< or =0.016). None of the variants under study was found to be associated with PD regardless of an additional diagnosis of agoraphobia.

摘要

多项证据表明,儿茶酚胺,尤其是去甲肾上腺素,与惊恐障碍(PD)的病因和/或症状有关。在细胞水平上,功能性去甲肾上腺素能神经传递依赖于去甲肾上腺素转运体(NET)介导的去甲肾上腺素的突触再摄取。作为具有既定抗惊恐疗效的药物(如三环类抗抑郁药)的药理学靶点,NET在惊恐障碍中备受关注。我们在87例惊恐障碍患者和89名健康对照人群中研究了NET基因中6种天然存在的外显子序列变异,其中5种会导致氨基酸替代(Val69Ile、Thr99Ile、Val245Ile、Val449Ile和Gly478Ser)。除了一个沉默替代(G1287A)外,变异等位基因的总体频率较低(≤0.016)。无论是否有广场恐惧症的额外诊断,所研究的变异均未发现与惊恐障碍相关。

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