Maria Sasvari-Szekely

Maria Sasvari-Szekely
Semmelweis University | SOTE · Department of Medical Chemistry, Molecular Biology and Pathobiochemistry

Ph.D., D.Sc.

About

156
Publications
40,121
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Publications

Publications (156)
Article
Full-text available
Epidemiological and phenomenological studies suggest shared underpinnings between multiple addictive behaviors. The present genetic association study was conducted as part of the Psychological and Genetic Factors of Addictions study (n = 3003) and aimed to investigate genetic overlaps between different substance use, addictive, and other compulsive...
Article
Full-text available
Background: Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum. Some variants in the Wolfram Syndrome 1 gene (WFS1) were associated with various neuropsychiatric disorders in humans, such as aggressiveness, impulsivity and anxiety. Results: Here we present...
Preprint
Full-text available
Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum. Some variants in the Wolfram Syndrome 1 gene (WFS1) were associated with various neuropsychiatric disorders in humans, such as aggressiveness, impulsivity and anxiety. Results Here we present an i...
Article
Full-text available
Background Galanin, an inhibitory neuropeptide and cotransmitter has long been known to co-localize with noradrenaline and serotonin in the central nervous system. Several human studies demonstrated altered galanin expression levels in major depressive disorder and anxiety. Pharmacological modulation of galanin signaling and transgenic strategies p...
Article
Full-text available
Introduction and aim: Earlier results in the literature suggest that overweight subjects show weaker performance in executive function tasks as compared to normal weight people. Dopaminergic system is strongly linked to executive functions, body mass regulation and ingestion. The aim of the present study was to examine the possible relationship bet...
Article
Full-text available
Among the monoaminergic modulatory neurotransmitters, norepinephrine is involved in task orienting, hence noradrenergic genetic variants have been studied in connection to attentional processes. The role of this catecholamine system is also highlighted by the selective norepinephrine transporter blocking atomoxetine, which has proved to be effectiv...
Article
Objectives Most of the addiction studies focus on very specific aspects of addictions, often with contradictory results, and integrated studies are quite rare. Experimental studies comparing underlying mechanisms of addictions and analyzing data from an integrative psychological and genetic perspective are almost nonexistent. The aim of the present...
Article
Our aim was to introduce more homogenous phenotypes for studying genetic variations in the clinically heterogeneous obsessive compulsive disorder (OCD) beside classical case-control analysis. Symptoms were assessed with Children's Yale-Brown Obsessive Compulsive Scale (CY-BOCS), and principle component analysis of the lifetime symptom categories yi...
Poster
Full-text available
Background: Individual differences of cognitive functioning show substantial heritability, candidate gene studies to date concentrated on dopaminerg polymorphisms. The 7-repeat allele of the variable number of tandem repeat polymorphism in the dopamine receptor 4 gene (DRD4 VNTR) has been studied extensively with relation to psychological traits: A...
Article
During the last decades, the prevalence of allergy has dramatically increased. Allergen-specific immunotherapy is the only currently available medical intervention that has the potential to affect the natural course of the disease, but there are still many questions and unmet needs hindering its widespread use to fulfill its treatment potential and...
Article
Full-text available
Hypnotizability is related to the Val¹⁵⁸Met polymorphism of the COMT gene. The authors’ aim was to find associations between candidate genes and subjective dimensions of hypnosis; 136 subjects participated in hypnosis and noninvasive DNA sampling. The phenomenological dimensions were tapped by the Archaic Involvement Measure (AIM), the Phenomenolog...
Article
Full-text available
Meeting humans is an everyday experience for most companion dogs, and their behavior in these situations and its genetic background is of major interest. Previous research in our laboratory reported that in German shepherd dogs the lack of G allele, and in Border collies the lack of A allele, of the oxytocin receptor gene (OXTR) 19208A/G single nuc...
Article
Full-text available
A growing body of evidence highlights the relationship between epigenetics, especially DNA methylation, and population divergence as well as speciation. However, little is known about how general the phenomenon of epigenetics-wise separation of different populations is, or whether population assignment is, possible based on solely epigenetic marks....
Article
Full-text available
Oxytocin is a key modulator of emotional processing and social cognitive function. In line with this, polymorphisms of genes involved in oxytocin signaling, like the oxytocin receptor (OXTR) gene, are known to influence social behavior in various species. However, to date, no study has investigated environmental factors possibly influencing the epi...
Article
Full-text available
Longevity is in part (25%) inherited, and genetic studies aim to uncover allelic variants that play an important role in prolonging life span. Results to date confirm only a few gene variants associated with longevity, while others show inconsistent results. However, GWAS studies concentrate on single nucleotide polymorphisms, and there are only a...
Article
Full-text available
Glial cell line-derived neurotrophic factor (GDNF) promotes development and differentiation of dopaminergic neurons, thus it has an important role in dopamine-related neuropsychiatric disorders. Since the role of dopamine system in smoking is well established, we hypothesized that GDNF gene variants may affect smoking behaviour. Self-reported data...
Article
Objective: This study's aim was to evaluate whether infant disorganized attachment and infant proneness to distress exhibited differential relations to infant genetic factors as indexed by the serotonin transporter polymorphism. Background: The role of the short allele of the serotonin transporter polymorphism (5-HTTLPR) in enhancing sensitivity...
Poster
Background Possible role of DNA methylation of genes concerned with neurobiological processes have long been implicated in behavioral variance, however, investigation of the role of epigenetic regulation in cognitive and temperamental characteristics is exceptionally challenging due to several factors such as (1) contribution of multiple genes with...
Poster
Oxytocin receptor (OXTR) is a key modulator of social behavior, affiliation and cognitive functions, as highlighted by animal studies. Polymorphisms of the OXTR gene are known to be related to behavioral traits both in humans and other mammals, however, little is known about the effect of epigenetic variations. In the present study, we use the dome...
Article
Full-text available
Cardiac death remains one of the leading causes of mortality worldwide. Recent research has shed light on pathophysiological mechanisms underlying cardiac death, and several genetic variants in novel candidate genes have been identified as risk factors. However, the vast majority of studies performed so far investigated genetic associations with sp...
Poster
Full-text available
Introduction: Diabetes mellitus has become one of the most significant health problems worldwide. It is known that the disease is a complex phenotype, being determined by both environmental and genetic factors as well as by their interactions. The purpose of this research project was to investigate, if certain genetic factors can be considered as r...
Poster
Full-text available
Oxytocin receptor (OXTR) is a key modulator of social behavior, affiliation and cognitive functions, as highlighted by animal studies. Polymorphisms of the OXTR gene are known to be related to behavioral traits both in humans and other mammals, however, little is known about the effect of epigenetic variations. In the present study, we use the dome...
Article
Full-text available
Aggressive manifestations and their consequences are a major issue of mankind, highlighting the need for understanding the contributory factors. Still, aggression-related genetic analyses have so far mainly been conducted on small population subsets such as individuals suffering from a certain psychiatric disorder or a narrow-range age cohort, but...
Poster
Oxytocin receptor (OXTR) plays a key role in social behavior, bonding and memory, as highlighted by animal studies. OXTR gene variations influence emotional reactions, such as anger and aggression, both in human and other mammals. Dogs show prominent similarities with young children in sensitivity to social stimuli and processing of emotions is als...
Poster
Full-text available
Introduction: The oxytocin system has a crucial role in human sociality; several results prove that polymorphisms of the oxytocin receptor (OXTR) gene are related to complex social behaviors in humans. Dogs’ parallel evolution with humans and their adaptation to the human environment has made them a useful species to model human social interactions...
Article
Full-text available
Psychiatric genetics aims to map genetic factors of psychiatric disorders with complex inheritance. The most commonly used phenotype is the categorical variable of the presence or absence of a disease (case-control model). However, the biological background of various psychiatric disease categories often overlaps. Thus, the use of endophenotypes ba...
Poster
Full-text available
Zsofia Banlaki1, Giulia Cimarelli2,3, Zsofia Viranyi2,3, Jozsef Topal 5, Dora Koller1,4, Maria Sasvari-Szekely1, Zsolt Ronai1 1Semmelweis University, Department of Medical Chemistry, Molecular Biology and Pathobiochemistry; Budapest, Hungary 2Wolf Science Center; Ernstbrunn, Austria 3Messerli Research Institute, University of Veterinary Medicine Vi...
Article
The glycogen synthase kinase 3B (GSK3B) is an important target protein of several antidepressants, such as lithium, a mood stabilizer. Recent studies associated structural variations of the GSK3B gene to bipolar disorder (BP), although replications were not conclusive. Here we present data on copy number variations (CNVs) of the GSK3B gene probing...
Article
The 25 kDa Synaptosomal-associated protein (SNAP-25) is a crucial component of the Soluble N-Ethylmaleimide-sensitive factor Attachment Protein Receptor (SNARE) complex and plays an important role in neurotransmission in the central nervous system. SNAP-25 has two different splice variants, SNAP-25a and SNAP-25b, differing in 9 amino acids that res...
Article
Full-text available
The oxytocin system has a crucial role in human sociality; several results prove that polymorphisms of the oxytocin receptor gene are related to complex social behaviors in humans. Dogs' parallel evolution with humans and their adaptation to the human environment has made them a useful species to model human social interactions. Previous research i...
Article
Full-text available
Impulsivity is a personality trait of high impact and is connected with several types of maladaptive behavior and psychiatric diseases, such as attention deficit hyperactivity disorder, alcohol and drug abuse, as well as pathological gambling and mood disorders. Polymorphic variants of the SNAP-25 gene emerged as putative genetic components of impu...
Article
Full-text available
Glial cell line-derived neurotrophic factor (GDNF) is a neurotrophic factor for dopaminergic neurons with promising therapeutic potential in Parkinson's disease. A few association analyses between GDNF gene polymorphisms and psychiatric disorders such as schizophrenia, attention deficit hyperactivity disorder and drug abuse have also been published...
Article
Full-text available
Background and aims: The primary aim of the present review was to summarize the findings of genetic studies conducted on problem and pathological gambling. Method: Literature searches were conducted using PubMed, Medline and the HuGE Navigator databases using the keywords 'gambling' and 'genetic*'. Results: The literature searches identified 2...
Article
Full-text available
Heroin dependence is a debilitating psychiatric disorder with complex inheritance. Since the dopaminergic system has a key role in rewarding mechanism of the brain, which is directly or indirectly targeted by most drugs of abuse, we focus on the effects and interactions among dopaminergic gene variants. To study the potential association between al...
Data
Haplotype frequencies of the Taq SNPs in the DRD2 gene. (XLS)
Data
Haplotype frequencies of the DRD4 promoter SNPs in controls and heroin dependent patients. (XLS)
Data
The summary of our findings. The results of the BN-BMLA method are shown in the inner dark grey ring. The height of the red columns corresponding to each variable represents the probability that the variable is present in the Markov blanket of the target variable. The variables are grouped in the outer circle based on their respective genes. The in...
Data
The complete list of the VNTR genotypes including all DRD4 and DAT variants. (XLS)
Article
Full-text available
Rare mutations in the WFS1 gene lead to Wolfram syndrome, a severe multisystem disorder with progressive neurodegeneration and diabetes mellitus causing life-threatening complications and premature death. Only a few association studies using small clinical samples tested the possible effects of common WFS1 gene variants on mood disorders and suicid...
Article
Full-text available
Glial cell line-derived neurotrophic factor (GNDF) plays an important role in the development and synaptic plasticity of dopaminergic neurons, thus it could be an important therapeutic factor in Parkinson's disease. Results from candidate gene studies of GDNF in psychiatric disorders are contradictory. Moreover, the possible association between GDN...
Article
Both dopamine receptor D4 (DRD4) exon 3 and tyrosine hydroxylase (TH) intron 4 repeat polymorphisms have been linked to activity and impulsivity in German Shepherd dogs (GSDs). However, the results in GSDs may not be generalisable to other breeds, as allelic frequencies vary markedly among breeds. We selected the Siberian Husky for further study, b...
Article
Full-text available
Impairment of executive control functions in depression is well documented, and performance on the Stroop Test is one of the most widely used markers to measure the decline. This tool provides reliable quantitative phenotype data that can be used efficiently in candidate gene studies investigating inherited components of executive control. Aim of t...
Data
Disorganized attachment is an early predictor of the development of psychopathology in childhood and adolescence. Lyons-Ruth et al. (1999) developed the AMBIANCE coding scheme to assess disrupted communication between mother and infant, and reported the link between maternal behavior and disorganized attachment. The Hungarian group found an associa...
Poster
Background: Individual differences of cognitive functioning show substantial heritability, candidate gene studies to date concentrated on dopaminerg polymorphisms. The 7-repeat allele of the variable number of tandem repeat polymorphism in the dopamine receptor 4 gene (DRD4 VNTR) has been studied extensively with relation to psychological traits: A...
Article
BACKGROUND: Recent investigations have revealed multiple actions of vascular endothelial growth factor (VEGF) in the nervous system. The role of VEGF in the molecular background of mood disorders has also been proposed. In this study we were interested in investigating a possible association between VEGF levels and treatment response in patients wi...
Article
Full-text available
Twin studies suggest 45% heritability of trait impulsivity. Results from candidate gene studies to date are contradictory; impulsivity phenotypes were measured by different behavioral and questionnaire methods related either to the dopaminergic or to the serotonergic system. Here we report an association study of both dopaminergic (COMT rs4680, DRD...
Article
Los genes candidatos del sistema dopaminérgico se han descrito como elementos clave en la conformación del temperamento del ser humano. La enzima catecol-O-metiltransferasa (COMT) desempeña un papel decisivo en la inactivación de la dopamina, y recientemente, en estudios efectuados en adultos sanos, al igual que en individuos dependientes de la met...
Article
Full-text available
There has been an increasing body of epidemiologic and biochemical evidence implying the role of cerebral insulin resistance in Alzheimer-type dementia. For a better understanding of the insulin effect on the central nervous system, we performed microarray-based global gene expression profiling in the hippocampus, striatum and prefrontal cortex of...
Data
List of validated genes in the brain areas of Goto-Kakizaki rats. Genes are shown in alphabetical order of gene symbols. Genes are identified both by gene name, Genbank accession number and gene symbol. The file contains three table sheets displaying genes with RT-PCR validated, significantly altered expression levels (more than twofold or less tha...
Data
List of differentially expressed genes in the brain areas of Goto-Kakizaki rats. Genes are ordered according to their fold expression changes. Genes are identified both by gene name, Genbank accession number and gene symbol. The file contains four table sheets displaying genes with significantly altered expression levels (more than twofold or less...
Article
Full-text available
We investigated the association between repeat polymorphism in intron 4 of the tyrosine hydroxylase (TH) gene and two personality traits, activity-impulsivity and inattention, in German Shepherd Dogs. The behaviour of 104 dogs was characterized by two instruments: (1) the previously validated Dog-Attention Deficit Hyperactivity Disorder Rating Scal...
Article
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Article
Full-text available
Synaptosomal-associated protein 25 (SNAP-25) plays a crucial role in exocitosis. Single nucleotide polymorphisms (rs3746544 and rs1051312) in the 3' un-translated region of the SNAP-25 gene have been described to be in association with attention-deficit hyperactivity disorder. As the disease affects millions of children world-wide, understanding th...
Article
Histone deacetylase inhibitors are promising anti-tumor agents partly due to their ability to disrupt the hypoxic signaling pathway in human malignancies. However, little is known about any effects of these drugs on the central nervous system. The aim of the present study was to analyze the effects of trichostatin A (TSA)--a broad-spectrum histone...