L-histidine decarboxylase and Tourette's syndrome.
L-histidine decarboxylase and Tourette's syndrome.
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DOI：
10.1056/nejmoa0907006
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发表时间：
2010-05-20
期刊：
影响因子：
--
通讯作者：
State MW
中科院分区：
文献类型：
--
作者：
Ercan-Sencicek AG;Stillman AA;Ghosh AK;Bilguvar K;O'Roak BJ;Mason CE;Abbott T;Gupta A;King RA;Pauls DL;Tischfield JA;Heiman GA;Singer HS;Gilbert DL;Hoekstra PJ;Morgan TM;Loring E;Yasuno K;Fernandez T;Sanders S;Louvi A;Cho JH;Mane S;Colangelo CM;Biederer T;Lifton RP;Gunel M;State MW
抽动秽语综合征是一种常见的发育性神经精神疾病，其特征是慢性运动和发声抽搐。尽管有很强的遗传贡献，遗传是复杂的，风险等位基因已被证明难以识别。在这里，我们描述了一个两代系谱中的连锁分析，导致一种罕见的功能突变的HDC基因编码的L-组氨酸脱羧酶，组胺生物合成的限速酶的鉴定。我们的研究结果，加上先前发表的数据模型系统，指出组胺能神经传递的作用，在抽动秽语综合征和抽搐的机制和调制。
Tourette's syndrome is a common developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Despite a strong genetic contribution, inheritance is complex, and risk alleles have proven difficult to identify. Here, we describe an analysis of linkage in a two-generation pedigree leading to the identification of a rare functional mutation in the HDC gene encoding l-histidine decarboxylase, the rate-limiting enzyme in histamine biosynthesis. Our findings, together with previously published data from model systems, point to a role for histaminergic neurotransmission in the mechanism and modulation of Tourette's syndrome and tics.