BACKGROUND: The ADARB1 gene is located in 21q22.3 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 pathophysiology 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 I 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 I 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.
Titolo: | Sequence analysis of ADARB1 gene in patients with familial bipolar disorder |
Autore/i: | AMORE M; STRIPPOLI, PIERLUIGI; LATERZA C; TAGARIELLO P; VITALE, LORENZA; CASADEI, RAFFAELLA; FRABETTI, FLAVIA; CANAIDER, SILVIA; LENZI, LUCA; D'ADDABBO, PIETRO; CARINCI, PAOLO; TORRONI, ARIANNA; FERRARI, GIUSEPPE; ZANNOTTI, MARIA |
Autore/i Unibo: | |
Anno: | 2004 |
Rivista: | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.jad.2003.08.006 |
Abstract: | BACKGROUND: The ADARB1 gene is located in 21q22.3 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 pathophysiology 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 I 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 I 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. |
Data prodotto definitivo in UGOV: | 2005-10-14 12:07:17 |
Data stato definitivo: | 2019-09-06T15:21:15Z |
Appare nelle tipologie: | 1.01 Articolo in rivista |