Analysis of the gastrin‐releasing peptide receptor gene in Italian patients with autism spectrum disorders

Seidita, Gregorio; Mirisola, Mario G.; D'Anna, Rosalba; Gallo, Alessia; Jensen, Robert T.; Mantey, Samuel A.; González, Nieves; Falco, Michele; Zingale, Marinella; Elia, Maurizio; Cucina, L.; Chiavetta, Valeria; Romano, Valentino; Calı̀, Francesco

doi:10.1002/ajmg.b.30752

Cited by 12 publications

(8 citation statements)

References 25 publications

(26 reference statements)

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“…However, it is hazardous to consider a correlation with the absence of this gene as the findings of a recent study of 149 Italian autistic patients do not indicate that GRPR plays a major role in ASD [17]. The stereotypies of our patient may therefore also be associated with the AP1S2 deletion because two of the described XLMR patients with stereotypies have been diagnosed as having ASD [8].…”

Section: Discussionmentioning

confidence: 67%

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

Ballarati

Cereda

Caselli

et al. 2012

European Journal of Medical Genetics

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a b s t r a c tWe identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unspecific dysmorphic facial features. The deletion was inherited from the healthy mother. Point mutations of the AP1S2 gene have been identified in patients with X-linked mental retardation (XLMR). The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.

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Section: Discussionmentioning

confidence: 67%

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

Ballarati

Cereda

Caselli

et al. 2012

European Journal of Medical Genetics

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“…A subsequent study investigating two polymorphic sites in the second exon of the GRPR gene in patients with autism did not support that the GRPR is a candidate locus for autism (Marui et al, 2004). However, a possible role of C6S and L181F mutations of the GRPR gene in GRPR function and ASD has been identified in two patients (Seidita et al, 2008). Evidence from preclinical experiments showing impaired social behavior in rats given neonatal GRPR blockade supports a role for GRPR in ASD (Presti-Torres et al, 2007.…”

Section: Therapeutic Implications Of Bombesin Receptors In Memory Andmentioning

confidence: 93%

Bombesin receptor regulation of emotional memory

Roesler

Kent²,

Schröder³

et al. 2012

Reviews in the Neurosciences

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Mammalian bombesin-like peptides neuromedin B (NMB) and gastrin-releasing peptide (GRP) act by activating NMB receptors (NMBR, BBl) and GRP receptors (GRPR,BB2), respectively. These two bombesin receptors are members of the G-protein-coupled receptor (GPCR) superfamily.In the brain, NMBR and GRPR are highly expressed in the brain areas involved in memory processing and emotional responses, such as the hippocampus and the amygdaloid nuclei. An increasing number of pharmacological and genetic studies in rodents indicate that NMBRs and GRPRs in brain regions including the dorsal hippocampus,the nucleus tractus solitarius, the basolateral amygdala,and cortical areas, regulate memory formation and expression, particularly for memories related to emotionally arousing tasks. GRPR signaling interacts with multiple protein kinase pathways as well as with other neurotransmitter,hormone, and growth factor systems in influencing memory formation. Together with evidence from human studies, the findings from rodent experiments suggest that bombesin receptors may be therapeutic targets in brain disorders involving memory dysfunction and anxiety.

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“…Although a subsequent study investigating two polymorphic sites in the second exon of the GRPR gene in patients did not support the GRPR as a candidate locus for autism (Marui et al, 2004), more recently a possible role of C6S and L181F mutations of the GRPR gene in GRPR function and ASD was found in two patients (Seidita et al, 2008). …”

Section: Possible Role Of Alterations In Grpr Expression and Signalinmentioning

confidence: 99%

Gastrin-releasing peptide receptors in the central nervous system: role in brain function and as a drug target

Roesler¹,

Schwartsmann²

2012

Front. Endocrin.

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Neuropeptides acting on specific cell membrane receptors of the G protein-coupled receptor (GPCR) superfamily regulate a range of important aspects of nervous and neuroendocrine function. Gastrin-releasing peptide (GRP) is a mammalian neuropeptide that binds to the GRP receptor (GRPR, BB2). Increasing evidence indicates that GRPR-mediated signaling in the central nervous system (CNS) plays an important role in regulating brain function, including aspects related to emotional responses, social interaction, memory, and feeding behavior. In addition, some alterations in GRP or GRPR expression or function have been described in patients with neurodegenerative, neurodevelopmental, and psychiatric disorders, as well as in brain tumors. Findings from preclinical models are consistent with the view that the GRPR might play a role in brain disorders, and raise the possibility that GRPR agonists might ameliorate cognitive and social deficits associated with neurological diseases, while antagonists may reduce anxiety and inhibit the growth of some types of brain cancer. Further preclinical and translational studies evaluating the potential therapeutic effects of GRPR ligands are warranted.

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Analysis of the gastrin‐releasing peptide receptor gene in Italian patients with autism spectrum disorders

Cited by 12 publications

References 25 publications

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

Bombesin receptor regulation of emotional memory

Gastrin-releasing peptide receptors in the central nervous system: role in brain function and as a drug target

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