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首页> 外文期刊>Neuron >Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
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Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice

机译：组氨酸脱羧酶缺乏症导致抽动秽语综合征：人类和小鼠的平行发现。

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摘要

Tourette syndrome (TS) is characterized by tics, sensorimotor gating deficiencies, and abnormalities of cortico-basal ganglia circuits. A mutation in histidine decarboxylase (Hdc), the key enzyme for the biosynthesis of histamine (HA), has been implicated as a rare genetic cause. Hdc knockout mice exhibited potentiated tic-like stereotypies, recapitulating core phenomenology of TS; these were mitigated by the dopamine (DA) D2 antagonist haloperidol, a proven pharmacotherapy, and by HA infusion into the brain. Prepulse inhibition was impaired in both mice and humans carrying Hdc mutations. HA infusion reduced striatal DA levels; in Hdc knockout mice, striatal DA was increased and the DA-regulated immediate early gene Fos was upregulated. DA D2/D3 receptor binding was altered both in mice and in humans carrying the Hdc mutation. These data confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology.
机译：抽动秽语综合症（TS）的特征是抽动，感觉运动门控功能缺陷和皮质基底神经节回路异常。组氨酸脱羧酶（Hdc）的突变是组胺生物合成的关键酶，已被认为是罕见的遗传原因。 Hdc基因敲除小鼠表现出增强的抽动样定型观念，概括了TS的核心现象。多巴胺（DA）D2拮抗剂氟哌啶醇（一种行之有效的药物治疗）和HA注入大脑可缓解这些症状。在携带Hdc突变的小鼠和人类中，前脉冲抑制均受损。 HA注射可降低纹状体DA水平;在Hdc基因敲除小鼠中，纹状体DA增加，而DA调节的立即早期基因Fos上调。在小鼠和携带Hdc突变的人类中，DA D2 / D3受体的结合都发生了改变。这些数据证实组氨酸脱羧酶缺乏症是TS的罕见原因，并将基底神经节中的HA-DA相互作用确定为病理的重要部位。

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