Sequence analysis of ADARB1 gene in patients with familial bipolar disorder.
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.
Amore
Mario
M
Institute of Psychiatry, University of Parma, p.zza Matteotti, 9, 43100, Italy. mario.amore@unipr.it
Strippoli
Pierluigi
P
Laterza
Caterina
C
Tagariello
Pietro
P
Vitale
Lorenza
L
Casadei
Raffaella
R
Frabetti
Flavia
F
Canaider
Silvia
S
Lenzi
Luca
L
D'Addabbo
Pietro
P
Carinci
Paolo
P
Torroni
Arianna
A
Ferrari
Giuseppe
G
Zannotti
Maria
M
D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D001714:Bipolar Disorder / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D002891:Chromosomes, Human, Pair 21; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018698:Glutamic Acid / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics; D012322:RNA Precursors / Q000235:genetics; D016601:RNA-Binding Proteins; D017470:Receptors, Glutamate / Q000235:genetics; D017422:Sequence Analysis, DNA; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology
D000927:Anticonvulsants; D012322:RNA Precursors; D016601:RNA-Binding Proteins; D017470:Receptors, Glutamate; D018698:Glutamic Acid; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase