Sequence analysis of ADARB1 gene in patients with familial bipolar disorder

JOURNAL OF AFFECTIVE DISORDERS

卷:81

Article

Amore, M ; Strippoli, P ; Laterza, C ; Tagariello, P ; Vitale, L ; Casadei, R ; Frabetti, F ; Canaider, S ; Lenzi, L ; D'Addabbo, P ; Carinci, P ; Torroni, A ; Ferrari, G ; Zannotti, M

关键词: ADARB1 gene;    bipolar disorder;    sequencing;    polymorphism;    glutamate;    anticonvulsants;   

DOI  :  10.1016/j.jad.2003.08.006

来源: Elsevier

【 摘 要 】

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.

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