Sequence analysis of ADARB1 gene in patients with familial bipolar disorder
Sequence analysis of ADARB1 gene in patients with familial bipolar disorder
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DOI：
10.1016/j.jad.2003.08.006
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发表时间：
2004-07-01
影响因子：
6.6
通讯作者：
Zannotti, M
中科院分区：
文献类型：
--
作者：
Amore, M;Strippoli, P;Zannotti, M
背景资料：ADARB1基因位于21q22.3区域，与家族性双相情感障碍相关，其产物具有编辑作用。谷氨酸受体B亚基前体mRNA的表达。多巴胺能神经传递功能障碍可能在双相情感障碍（BD）的病理生理中起重要作用。谷氨酸兴奋性神经传递调节是抗惊厥药物调节情绪的初步作用的可能机制。研究方法：为了探讨ADARB1基因参与BD的假设，ADARB1 cDNA已被克隆和测序，在7个选定的双相1型障碍患者的证据熟悉的情绪障碍。对开放阅读框中的基因核苷酸序列进行了详细的研究。结果如下：在任何患者中均未发现ADARB1基因cDNA序列的改变，除了7例患者中有3例存在常见的中性多态性。结论：ADARB1基因突变通常与双相1型障碍无关，因此21q22区域的其他基因可能与某些家族中的双相疾病相关，可能是在多因素传播模型的背景下。(C)2003 Elsevier B.V.保留所有权利。
Background: The ADARB1 gene is located in 2 1 q22.3 region, previously linked to familial bipolar disorder, and its product has a documented action in the editing. of the pre-mRNA of glutamate receptor B subunit. Dysfunction of glutamatergic neurotransmission could play an important role in the patophysiology of bipolar disorder (BD). Glutamate excitatory neurotransmission regulation is a possible mechanism of the initial effect of anticonvulsants in regulating mood. Methods: To investigate the hypothesis of an involvement of ADARB1 gene in the BD, the ADARB1 cDNA has been cloned and sequenced in seven selected bipolar 1 disorder patients with evidence of familiarity of mood disorders. A detailed investigation of the gene nucleotide sequence in the open reading frame has been performed. Results: No alteration in the sequence of the ADARB1 gene cDNA was found in any patient, except a common neutral polymorphism in three out of seven patients. Conclusions: Mutations in ADARB1 gene are not commonly associated with bipolar 1 disorder, therefore other genes in the 21q22 region could be associated with bipolar illness in some families, likely in the context of a multifactorial transmission model. (C) 2003 Elsevier B.V. All rights reserved.