Péter Álmos

H1 tau haplotype-related genomic variation at 17q21.3 as an Asian heritage of the European Gypsy population

In this study, we examine the frequency of a 900 kb inversion at 17q21.3 in the Gypsy and Caucasian populations of Hungary, which may reflect the Asian origin of Gypsy populations. Of the two haplotypes (H1 and H2), H2 is thought to be exclusively of Caucasian origin, and its occurrence in other racial groups is likely to reflect admixture. In our sample, the H1 haplotype was significantly more frequent in the Gypsy population (89.8 vs 75.5%, P<0.001) and was in Hardy–Weinberg disequilibrium (P=0.017). The 17q21.3 region includes the gene of microtubule-associated protein tau, and this result might imply higher sensitivity to H1 haplotype-related multifactorial tauopathies among Gypsies.

Direct and Indirect Symptom Severity Indicators of Alcohol Dependence and the Personality Concept of the Biosocial Model

Temperament and character factors are strongly related to the developmental, clinical, and treatment aspects of alcohol dependence. This study had the aim of revealing the underlying personality structure and individual differences in the symptoms of alcohol dependence measured by multiple severity indicators. Patients with alcohol dependence exhibited higher levels of novelty seeking and harm avoidance, and lower levels of persistence, self-directedness, and cooperativeness. Especially novelty seeking was connected with more severe alcohol dependence. These characteristics could be useful targets of interventions and Temperament and Character Inventory is therefore a useful measurement to identify patients with more severe alcohol-related problems.

Dopamine metabolism-related gene polymorphisms in Roma (Gypsy) and Hungarian populations

Dysfunctions of the dopaminergic system occur in several neuropsychiatric disorders, such as schizophrenia, bipolar affective disorder, drug abuse and Parkinson’s disease (Cousins et al. 2009; Halliday and McCann 2010; Lodge and Grace 2011). The susceptibility to these disorders can be mediated by variants of genes involved in dopaminergic transmission, i.e. dopamine transporter and dopamine receptors (Hoenicka et al. 2007). The dopamine transporter (DAT) gene (SLC6A3) 40 bp variable number tandem repeat (VNTR) and the dopamine D3 receptor (DRD3) Ser9Gly polymorphisms have been widely studied for population variations, but until now the Roma population was not examined for these markers. DAT is responsible for the presynaptic reuptake of dopamine and it is also the target of several psychoactive drugs (Kang et al. 1999). The human SLC6A3 gene is located on chromosome 5p15.3 and a 40 bp VNTR polymorphism has been identified in the 3′ untranslated region (Sano et al. 1993). The diverse physiological functions of dopamine are mediated by five different dopamine receptors. The D1 and D5 receptors are members of the D1-like family of dopamine receptors, whereas the D2, D3 and D4 receptors are members of the D2-like family.DRD3 is predominantly expressed in limbic brain areas which are altered in several psychiatric disorders (Bouthenet et al. 1991). The DRD3 gene has been mapped to chromosome 3q13.3. A single-nucleotide polymorphism (SNP) in the 5′ part of theDRD3 gene producing a nonconservative amino acid substitution at codon 9 (Ser/Gly) has been identified (Lannfelt et al. 1992).

[SCHIZOBANK - The Hungarian national schizophrenia biobank and its role in schizophrenia research and in personalized medicine].

Delineating the pathogenesis of multifactorial diseases is a major challenge of the postgenomial era. Genetic factors are known to play an important role in the pathogenesis of certain psychiatric disorders as well as in the development of adverse reactions to psychoactive drugs. Containing large numbers of samples and linking them clinical data, biobanks are gaining importance in the studies of chronic multifactorial diseases. Several biobanks are under establishment in Hungary. The first initiative to collect samples in neurological and psychiatric disorders was the NEPSYBANK coordinated by the Hungarian Society of Clinical Neurogenetics. The national biobank network is currently established by the NEKIFUT project of the National Office of Research and Technology. In this article we describe the structure, logistics and informatical background of the national schizophrenia biobank (SCHIZOBANK). The initiative of the SCHIZOBANK originates from a consortium in which academy and health industry partners are collecting biological materials and data in five major psychiatric center under the coordination of the Medical and Health Science Center of the University of Debrecen. We review other international schizophrenia biobanks as well. Major strength of the SCHIZOBANK is the collection of very detailed phenotypic data and of RNA and plasma both in psychotic and non-psychotic state of the patient which permits longitudinal follow-up and the study of both static and dynamically changing transcriptomic, proteomic and metabolomic markers. The collection of the SCHIZOBANK is available not only to consortial partners but to other national and international research groups as well.

SCHIZOBANK – The Hungarian national schizophrenia biobank and its role in schizophrenia research

Delineating the pathogenesis of multifactorial diseases is a major challenge of the postgenomial era. Genetic factors are known to play an important role in the pathogenesis of certain psychiatric disorders as well as in the development of adverse reactions to psychoactive drugs. Containing large numbers of samples and linking them clinical data, biobanks are gaining importance in the studies of chronic multifactorial diseases. Several biobanks are under establishment in Hungary. The first initiative to collect samples in neurological and psychiatric disorders was the NEPSYBANK coordinated by the Hungarian Society of Clinical Neurogenetics. The national biobank network is currently established by the NEKIFUT project of the National Office of Research and Technology. In this article we describe the structure, logistics and informatical background of the national schizophrenia biobank (SCHIZOBANK). The initiative of the SCHIZOBANK originates from a consortium in which academy and health industry partners are collecting biological materials and data in five major psychiatric center under the coordination of the Medical and Health Science Center of the University of Debrecen. We review other international schizophrenia biobanks as well. Major strength of the SCHIZOBANK is the collection of very detailed phenotypic data and of RNA and plasma both in psychotic and non-psychotic state of the patient which permits longitudinal follow-up and the study of both static and dynamically changing transcriptomic, proteomic and metabolomic markers. The collection of the SCHIZOBANK is available not only to consortial partners but to other national and international research groups as well.

Cognitive Functioning of Depressed Patients with History of Suicidal Attempt

Introduction Major Depressive Disorder (MDD) is a complex disease characterized by cognitive dysfunctions. The subgroups of MDD show different cognitive profile. Aims The aim of this study to examine whether depressed suicide attempters show impaired executive functions. Objectives We hypothesised that patients from this subgroup have decision making, cognitive inhibition and verbal working memory deficits. Methods 17 depressed patients with history of suicide attempt and 13 healthy subjects completed the reward and punishment-related versions of a decision making task (Iowa Gambling Task, IGT), an irrelevant-respond inhibition task (Stroop Task), a respond inhibition task (Stop Task) and a measure of verbal working memory (Digit Span). Results Depressed patients showed impairment in the reward-related version of IGT (ABCD) and higher error-interference effect in the Stroop Task. There was a tendency toward higher reaction time-interference in Stroop Task and worse performance in Digit Span. Their performance did not differ from healthy controls in the punishment-related version of IGT (EFGH) and in the Stop Task. Conclusions Reward-related decision making, irrelevant-respond inhibition and verbal working memory dysfunctions were more frequently found among the patient group. They perform normally in the punishment-related version of IGT, while preliminary studies show that patients who attempt suicide within 72 hours perform poorly in this task. Further studies should examine whether punishment-related version can differentiate high-risk suicide attempters. Download full-size image

Spirituality mediates state anxiety but not trait anxiety and depression in alcohol recovery

Abstract Background and objectives: Twelve-step based interventions promote the recovery from alcohol dependence, support relapse prevention and are associated with improved mental status indices (e.g. depression). This treatment model largely relies on spiritual experience. We tested three different alcohol treatment settings, which differently involve elements of spirituality in order to reveal its possible mediator effect on the level of depressive and anxiety symptoms. Methods: Patients were involved from (1) detoxification (n = 34), (2) long-term – 12-step based – therapeutic community treatment (n = 89), (3) and from Alcoholics Anonymous (AA) groups after at least 3 years of attendance (n = 46). Anxiodepressive symptoms and spirituality/transcendence were compared and the potential mediator role of spirituality was assessed in the levels of depressive and anxiety symptoms. Results: Long-term 12-step based rehabilitation and sustained AA attendance was connected to lower levels of anxiodepressive symptoms and to more pronounced spirituality. The spiritual component of the different treatments played a mediator role in the decrease of state anxiety but this mediation was not detected in the case of depressive symptoms and trait anxiety. Conclusions/Importance: The role of spirituality in the decrease of state anxiety indicates acute beneficial effect. Therefore, long term, regular attendance in AA groups is essential.

EPA-0580 – Examining the genomic architecture of neuronal glucose transporter 3 from an evolutionary perspective

Neuronal glucose transporter 3 (Glut3, SLC2A3 ) is essential in providing energy supply for neurons. Using mice as disease-models homozygous slc2a3 knock-out was found to be lethal in early embryonic phase while heterozygous form was associated to autism spectrum disorders. The genomic region where SLC2A3 is located (12p13.3) is investigated intensely since NANOG – a homeobox gene critical in embryogenesis – and one of its impressive number of pseudogenes are also located here. Interestingly, this region also codes the gene SLC2A14 which is selectively expressed in testis and lung but shows 95% homology with SLC2A3 . A tandem duplication event involving NANOG and SLC2A3 was proposed as a possible explanation to the current genomic architecture. Since SLC2A3 was associated to a number of mental disorders this study aimed to examine SLC2A3 and the related region in an evolutionary perspective. Ensembl BLAST search and multi-species alignment were used to provide a comparison. Our results support the notion that the region of 12p13.3 underwent a tandem duplication event which gave rise to new paralogues of NANOG and SLC2A3 . Out of these SLC2A3 and SLC2A14 both remained functional. We argue that the region can be still a genomic spot susceptible to further rearrangements.

P01-408 - Investigation of the effects of emotional context and psychosocial stress on response inhibition

Introduction Response inhibition (RI) is a basic component of human behaviour responsible for suppressing actions or thoughts which are inappropriate in a certain context. This cognitive function is well-studied in laboratory conditions, but there is limited data how it is influenced by emotional context and psychosocial stress. Objectives The effect of emotional factors on RI can be investigated with an emotional go/nogo task, while psychosocial stress can be induced with the Trier Social Stress Test (TSST). Electroencephalography (EEG) is an excellent method for studying the neural correlates of RI: the two major event-related potentials (ERPs) implicated in the process are the frontal N2 and P3 components. Aims In this respect, our aim was to investigate how psychosocial stress and emotional context modulate these ERPs. Methods Seven healthy adult volunteers performed emotional go/no go tasks while brain responses were recorded by EEG. The task was carried out on two different occasions: at baseline condition and after moderate psychosocial stress induced by the TSST. Results We successfully replicated the robust go vs. nogo effect on the frontal N2 and P3 amplitudes. However, ERPs were not affected by positive or negative emotional context in the baseline condition. In contrast, after TSST a significantly enhanced valence effect was observed on the go-related N2 amplitude and a greater go vs. nogo N2 latency difference was detected. Conclusions These findings highlight the importance of the stress-regulating system on emotionally modulated RI and render this paradigm a promising tool for investigating RI in anxiety and mood disorders.

Magyar szkizofrénia-biobank a szkizofréniakutatás és a személyre szabott orvoslás szolgálatában

Delineating the pathogenesis of multifactorial diseases is a major challenge of the postgenomial era. Genetic factors are known to play an important role in the pathogenesis of certain psychiatric disorders as well as in the development of adverse reactions to psychoactive drugs. Containing large numbers of samples and linking them clinical data, biobanks are gaining importance in the studies of chronic multifactorial diseases. Several biobanks are under establishment in Hungary. The first initiative to collect samples in neurological and psychiatric disorders was the NEPSYBANK coordinated by the Hungarian Society of Clinical Neurogenetics. The national biobank network is currently established by the NEKIFUT project of the National Office of Research and Technology. In this article we describe the structure, logistics and informatical background of the national schizophrenia biobank (SCHIZOBANK). The initiative of the SCHIZOBANK originates from a consortium in which academy and health industry partners are collecting biological materials and data in five major psychiatric center under the coordination of the Medical and Health Science Center of the University of Debrecen. We review other international schizophrenia biobanks as well. Major strength of the SCHIZOBANK is the collection of very detailed phenotypic data and of RNA and plasma both in psychotic and non-psychotic state of the patient which permits longitudinal follow-up and the study of both static and dynamically changing transcriptomic, proteomic and metabolomic markers. The collection of the SCHIZOBANK is available not only to consortial partners but to other national and international research groups as well.