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Dopamine irish

A Ventzke, J Hoffmann, E Crushell, A Monavari, P D Mayne, I Knerr
DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. We present four patients in two families who are being treated at the National Centre for Inherited Metabolic Disorders (NCIMD)...
November 2015: Irish Medical Journal
Laura M Hack, Gursharan Kalsi, Fazil Aliev, Po-Hsiu Kuo, Carol A Prescott, Diana G Patterson, Dermot Walsh, Danielle M Dick, Brien P Riley, Kenneth S Kendler
BACKGROUND: Over 50 years of evidence from research has established that the central dopaminergic reward pathway is likely involved in alcohol dependence (AD). Additional evidence supports a role for dopamine (DA) in other disinhibitory psychopathology, which is often comorbid with AD. Family and twin studies demonstrate that a common genetic component accounts for most of the genetic variance in these traits. Thus, DA-related genes represent putative candidates for the genetic risk that underlies not only AD but also behavioral disinhibition...
February 2011: Alcoholism, Clinical and Experimental Research
Qi Chen, Xu Wang, Francis A O'Neill, Dermot Walsh, Kenneth S Kendler, Xiangning Chen
BACKGROUND: : The histidine triad nucleotide-binding protein 1, HINT1, hydrolyzes adenosine 5'-monophosphoramidate substrates such as AMP-morpholidate. The human HINT1 gene is located on chromosome 5q31.2, a region implicated in linkage studies of schizophrenia. HINT1 had been shown to have different expression in postmortem brains between schizophrenia patients and unaffected controls. It was also found to be associated with the dysregulation of postsynaptic dopamine transmission, thus suggesting a potential role in several neuropsychiatric diseases...
December 2008: Schizophrenia Research
Owen A Ross, Michael G Heckman, Alexandra I Soto, Nancy N Diehl, Kristoffer Haugarvoll, Carles Vilariño-Güell, Jan O Aasly, Sigrid Sando, J Mark Gibson, Timothy Lynch, Anna Krygowska-Wajs, Grzegorz Opala, Maria Barcikowska, Krzysztof Czyzewski, Ryan J Uitti, Zbigniew K Wszolek, Matthew J Farrer
A single nucleotide polymorphism in the promoter region of the dopamine beta-hydroxylase gene (DBH -1021C>T; rs1611115) is reported to regulate plasma enzyme activity levels. This variant has also been the focus of two large association studies in Parkinson's disease yielding conflicting results. We examined this association in four Caucasian patient-control series (n=2696). A modest protective association was observed in the Norwegian series (OR=0.81, p=0.03; n=1676), however, the effect was in the opposite direction in the Polish series (OR=2...
November 2008: Parkinsonism & related Disorders
Manickavasagom Alkondon, Edna F R Pereira, Michelle C Potter, Frederick C Kauffman, Robert Schwarcz, Edson X Albuquerque
Prepulse inhibition (PPI), a measure of sensorimotor gating impaired in patients with schizophrenia, is more sensitive to disruption by apomorphine in prepubertal August Copenhagen Irish (ACI) than Sprague-Dawley (SD) rats. In brain regions including the hippocampus, PPI is modulated by alpha7* nicotinic receptors (nAChRs) and kynurenic acid (KYNA), a kynurenine metabolite that blocks alpha7 nAChRs. Here, KYNA levels and nAChR activities were measured in the hippocampi of 10- to 23-day-old ACI and SD rats of both sexes...
February 2007: Journal of Neurophysiology
Ziarih Hawi, Ricardo Segurado, Judith Conroy, Karen Sheehan, Naomi Lowe, Aiveen Kirley, Denis Shields, Michael Fitzgerald, Louise Gallagher, Michael Gill
Family, twin, and adoption studies have demonstrated a significant genetic contribution to the etiology of attention-deficit/hyperactivity disorder (ADHD). Pharmacological, neuroimaging, and animal-model findings suggest imbalances in monoaminergic (dopaminergic, serotonergic, and noradrenergic) neurotransmission in ADHD. We have examined monoaminergic candidate genes for possible genetic association with ADHD in the Irish population, focusing particularly on genes of the dopaminergic and serotonergic systems...
December 2005: American Journal of Human Genetics
L Kent, E Green, Z Hawi, A Kirley, F Dudbridge, N Lowe, R Raybould, K Langley, N Bray, M Fitzgerald, M J Owen, M C O'Donovan, M Gill, A Thapar, N Craddock
Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable, neurodevelopmental disorder with onset in early childhood. Genes involved in neuronal development and growth are, thus, important etiological candidates and brain-derived neurotrophic factor (BDNF), has been hypothesized to play a role in the pathogenesis of ADHD. BDNF is a member of the neurotrophin family and is involved in the survival and differentiation of dopaminergic neurons in the developing brain (of relevance because drugs that block the dopamine transporter can be effective therapeutically)...
October 2005: Molecular Psychiatry
Carmel Kealey, S Roche, E Claffey, P McKeon
Using a collection of Irish sib-pair nuclear families, we previously obtained modest evidence of linkage implicating 14q22-24 in bipolar disorder (BPD). To follow-up on this preliminary finding, an extended linkage analysis was performed which employed thirteen microsatellite markers, spanning a total distance of 85 cM on 14q. Effectively, P-values <0.05 were observed for a region extending over 41.88 cM, with the marker D14S281 displaying a peak multipoint non-parametric lod (NPL) score of 2.72 and an associated P-value of 0...
July 5, 2005: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Katharina Domschke, Karen Sheehan, Naomi Lowe, Aiveen Kirley, Celine Mullins, Roderick O'sullivan, Christine Freitag, Tim Becker, Judith Conroy, Michael Fitzgerald, Michael Gill, Ziarih Hawi
Pharmacological and genetic studies suggest the importance of the dopaminergic, serotonergic, and noradrenergic systems in the pathogenesis of attention deficit hyperactivity disorder (ADHD). Monoamine oxidases A and B (MAO-A and MAO-B) degrade biogenic amines such as dopamine and serotonin and thereby control the levels of these neurotransmitters in the central nervous system. We examined four polymorphisms in the MAO-A gene (30 bp promoter VNTR, CA microsatellite in intron 2, 941G/T SNP in exon 8, and A/G SNP in intron 12) as well as two markers in the MAO-B gene (CA microsatellite in intron 2 and T/C SNP in intron 13) for association with ADHD in an Irish sample of 179 nuclear families...
April 5, 2005: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Mark A Bellgrove, Katharina Domschke, Ziarih Hawi, Aiveen Kirley, Celine Mullins, Ian H Robertson, Michael Gill
ADHD is a highly heritable psychiatric disorder of childhood. A functional polymorphism (Val158Met) of the catechol-O-methyltransferase (COMT) gene has attracted interest as a candidate gene for ADHD. The high-activity valine variant of this polymorphism degrades prefrontal dopamine three to four times more quickly than the low-activity methionine variant and could therefore contribute to the proposed hypodopaminergic state in ADHD. Here we tested for association of this polymorphism with ADHD and examined its influence on prefrontal cognition in ADHD...
June 2005: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
David Craig, Dominic J Hart, Robyn Carson, Stephen P McIlroy, A Peter Passmore
It has been suggested that genetic influences unmasked during neurodevelopment to produce schizophrenia may appear throughout neurodegeneration to produce AD plus psychosis. Risk of schizophrenia and psychosis in Alzheimer's disease (AD) has been linked to polymorphic variation at the dopamine receptor DRD3 gene implying similar causative mechanisms. We tested this association in a large cohort of Alzheimer's disease patients with a diagnosis of probable AD of 3 years or more duration from the relatively genetically homogenous Northern Irish population...
September 16, 2004: Neuroscience Letters
X Chen, X Wang, A F O'Neill, D Walsh, K S Kendler
The enzyme catechol-o-methyltransferase (COMT) transfers a methyl group from adenosylmethionine to catecholamines including the neurotransmitters dopamine, epinephrine and norepinephrine. This methylation results in the degradation of catecholamines. The involvement of the COMT gene in the metabolic pathway of these neurotransmitters has made it an attractive candidate gene for many psychiatric disorders. In this article, we reported our study of association of COMT with schizophrenia in Irish families with a high density of schizophrenia...
October 2004: Molecular Psychiatry
Owen A Ross, Claire O'Neill, I Maeve Rea, Tim Lynch, David Gosal, Andrew Wallace, Martin D Curran, Derek Middleton, J Mark Gibson
Parkinson's disease (PD) is one of the most prevalent neurodegenerative disorders and is characterized by the progressive loss of dopamine neurons in the substantia nigra. There is increasing evidence to suggest the inflammatory response of the brain contributes to the pathogenesis of PD. This study investigated the frequency of polymorphism located in the critical promoter region of the proinflammatory cytokine genes: interleukin (IL)-2, IL-6, IL-8, and tumor necrosis factor alpha (TNF-alpha) within a cohort of patients with PD in comparison to a group of healthy elderly individuals...
April 2004: Human Immunology
Aiveen Kirley, Naomi Lowe, Ziarih Hawi, Celine Mullins, Grainne Daly, Irwin Waldman, Mary McCarron, Deirdre O'Donnell, Michael Fitzgerald, Michael Gill
Several studies have implicated the dopamine transporter gene (DAT1) as conferring susceptibility to attention deficit hyperactivity disorder (ADHD), in particular, a VNTR situated at the 3' end of the gene. In addition, the 10-repeat VNTR allele associated with ADHD has been reported to be associated with an over-active transporter protein (DAT). Thus children possessing this variant might be particularly responsive to methylphenidate, a drug known to act by blocking DAT. We have examined this hypothesis and now report an association between the 10-repeat VNTR DAT1 polymorphism and retrospectively rated methylphenidate response in a sample of 119 Irish children with ADHD (chi(2) = 7...
August 15, 2003: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Z Hawi, M Dring, A Kirley, D Foley, L Kent, N Craddock, P Asherson, S Curran, A Gould, S Richards, D Lawson, H Pay, D Turic, K Langley, M Owen, M O'Donovan, A Thapar, M Fitzgerald, M Gill
Attention deficit hyperactivity disorder (ADHD) is a highly heritable and heterogeneous disorder, which usually becomes apparent during the first few years of childhood. Imbalance in dopamine neurotransmission has been suggested as a factor predisposing to ADHD. However, evidence has suggested an interaction between dopamine and serotonin systems in the pathophysiology of the disorder. Studies using selective agonists of the different 5-HT receptors microinjected into selected brain structures have shown a positive modulating effect on the functional activities of the mesotelencephalic dopaminergic system...
2002: Molecular Psychiatry
Z Hawi, D Foley, A Kirley, M McCarron, M Fitzgerald, M Gill
Dopa decarboxylase (DDC) is an enzyme which catalyses the decarboxylation of both dopa to dopamine and L-5 hydroxytryptophan to serotonin. Both catecholamines are major neurotransmitters of the mammalian nervous system. It has been suggested that genes involved in the dopaminergic system play a primary role in predisposing to attention deficit hyperactivity disorder (ADHD). In this study, the 4-bp insertion/deletion variant mapped to the first neuronally expressed exon 1 at the dopa decarboxylase gene and two microsatellite markers flanking the gene were investigated for possible association with ADHD...
July 2001: Molecular Psychiatry
S J Pittock, C Joyce, V O'Keane, B Hugle, M O Hardiman, F Brett, A J Green, D E Barton, M D King, D W Webb
BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. METHODS: The authors evaluated 12 individuals from three generations of an Irish family and obtained detailed medical records on a deceased member. The authors describe the clinical, psychiatric, and genetic features of the affected individuals. RESULTS: Five of eight affected members developed sudden-onset (several hours to days) dystonia with postural instability...
October 10, 2000: Neurology
Z Hawi, N Millar, G Daly, M Fitzgerald, M Gill
Pharmacological and biochemical studies have indicated that imbalances in dopaminergic transmission may contribute to the aetiology of attention deficit hyperactivity disorder (ADHD). The enzyme catechol-O-methyltransferase (COMT) plays a key role in the degradation of catecholamines such as dopamine, L-DOPA, adrenaline, and noradrenaline and therefore could be considered as a candidate locus for ADHD susceptibility. We hypothesised that a proportion of the genetic susceptibility to ADHD may be a consequence of dopamine depletion in the synapses due to high-level activity of the COMT gene (allele 1)...
June 12, 2000: American Journal of Medical Genetics
Z Hawi, M McCarron, A Kirley, G Daly, M Fitzgerald, M Gill
Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent childhood-onset syndromes affecting 3%-6% of school-age children worldwide. Although the biological basis of ADHD is unknown, a dopaminergic abnormality has long been suggested. The dopamine D4 receptor gene (DRD4) has been mapped to chromosome 11p15.5 and has been implicated in predisposition to ADHD. Several independent genetic association studies have demonstrated increased frequency of the DRD4 7-repeat allele in ADHD cases compared with controls or excess transmission of the 7-repeat allele from parents to affected offspring...
June 12, 2000: American Journal of Medical Genetics
L A Mynett-Johnson, V E Murphy, E Claffey, D C Shields, P McKeon
Catechol-O-methyltransferase (COMT) catalyses the methylation, and hence the inactivation, of catecholamines including the neurotransmitters dopamine and noradrenaline. There is evidence implicating COMT as a candidate gene for a number of neuropsychiatric conditions including bipolar disorder. A long recognized population variation in COMT activity exists and it has recently been established that variation in enzyme activity results from a polymorphic genetic variation within the COMT gene which can be readily assayed as a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP)...
1998: Psychiatric Genetics
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