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8 results on '"Lakatosova, S."'

1. A Pooled Genome-Wide Association Study of Asperger Syndrome

Author

Warrier, V., Chakrabarti, B., Murphy, L., Chan, A., Craig, I., Mallya, U., Lakatosova, S., Rehnstrom, K., Peltonen, L., Wheelwright, S., Allison, C., Fisher, S.E., Baron-Cohen, S., Allison, Carrie [0000-0003-2272-2090], Baron-Cohen, Simon [0000-0001-9217-2544], and Apollo - University of Cambridge Repository

Subjects
Neuroinformatics, Male, Genome, Human, lcsh:R, lcsh:Medicine, Polymorphism, Single Nucleotide, Gene Frequency, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, lcsh:Q, Asperger Syndrome, lcsh:Science, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Research Article, Genome-Wide Association Study
Abstract

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Published
2015

2. A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: A preliminary study

Author

Baron-Cohen, S., Murphy, L., Chakrabarti, B., Craig, I., Mallya, U., Lakatosova, S., Rehnstrom, K., Peltonen, L., Wheelwright, S., Allison, C., Fisher, S., and Warrier, V.

Subjects
Male, Neuroinformatics, Adolescent, Genotype, Quantitative Trait Loci, Intelligence, Social Sciences, lcsh:Medicine, Polymorphism, Single Nucleotide, Gene Frequency, Mental Health and Psychiatry, Genome-Wide Association Studies, Genetics, Medicine and Health Sciences, Humans, Psychology, Autistic Disorder, lcsh:Science, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genome, Human, Learning Disabilities, lcsh:R, Cognitive Psychology, Chromosome Mapping, Biology and Life Sciences, Computational Biology, Human Genetics, Genomics, Genome Analysis, Human Intelligence, Cognitive Science, Female, lcsh:Q, Chromosomes, Human, Pair 3, Mathematics, Genome-Wide Association Study, Research Article, Neuroscience
Abstract

Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p

Published
2014

5. Plasma Oxytocin in Children with Autism and Its Correlations with Behavioral Parameters in Children and Parents.

Author

Husarova VM, Lakatosova S, Pivovarciova A, Babinska K, Bakos J, Durdiakova J, Kubranska A, Ondrejka I, and Ostatnikova D

Abstract

Objective: Oxytocin (OT) has been implicated to play an important role in autism spectrum disorders (ASD) etiology. We aimed to find out the differences in plasma OT levels between children with autism and healthy children, the associations of OT levels with particular autism symptoms and the associations of particular parental autistic traits with their ASD children OT levels., Methods: We included 19 boys with autism and 44 healthy age-matched boys. OT levels were analyzed by ELISA method. Children with autism were scored by Childhood Autism Rating Scale and Autism Diagnostic Interview (ADI), adjusted research version. Autism Spectrum Quotient (AQ), Systemizing Quotient (SQ) and Empathizing Quotient were completed by parents of children with autism., Results: Children with autism had significantly lower plasma OT levels than controls. OT levels positively correlated with ADI Reciprocal Interaction and Communication scores. AQ and SQ of fathers positively correlated with children plasma OT level., Conclusion: Our results support the hypothesis of OT deficiency in autism. The "paradoxical" associations of OT levels and social skills in children with autism indicate disturbances at various levels of OT system. We first reported associations of OT levels in children with autism and behavioral measures in fathers indicating that OT abnormalities stay between parental autistic traits and autism symptoms in their children.

Published
2016
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6. Gastrointestinal microbiota in children with autism in Slovakia.

Author

Tomova A, Husarova V, Lakatosova S, Bakos J, Vlkova B, Babinska K, and Ostatnikova D

Subjects
Adolescent, Autistic Disorder complications, Autistic Disorder diet therapy, Autistic Disorder metabolism, Child, Child, Preschool, Dietary Supplements, Feces chemistry, Feces microbiology, Gastrointestinal Diseases complications, Gastrointestinal Diseases diet therapy, Gastrointestinal Diseases metabolism, Gastrointestinal Diseases microbiology, Hormones blood, Humans, Interview, Psychological, Pilot Projects, Probiotics administration & dosage, Psychiatric Status Rating Scales, Real-Time Polymerase Chain Reaction, Severity of Illness Index, Siblings, Slovakia, Treatment Outcome, Tumor Necrosis Factor-alpha metabolism, Autistic Disorder microbiology, Gastrointestinal Tract microbiology, Microbiota
Abstract

Development of Autism Spectrum Disorders (ASD), including autism, is based on a combination of genetic predisposition and environmental factors. Recent data propose the etiopathogenetic role of intestinal microflora in autism. The aim of this study was to elucidate changes in fecal microbiota in children with autism and determine its role in the development of often present gastrointestinal (GI) disorders and possibly other manifestations of autism in Slovakia. The fecal microflora of 10 children with autism, 9 siblings and 10 healthy children was investigated by real-time PCR. The fecal microbiota of autistic children showed a significant decrease of the Bacteroidetes/Firmicutes ratio and elevation of the amount of Lactobacillus spp. Our results also showed a trend in the incidence of elevated Desulfovibrio spp. in children with autism reaffirmed by a very strong association of the amount of Desulfovibrio spp. with the severity of autism in the Autism Diagnostic Interview (ADI) restricted/repetitive behavior subscale score. The participants in our study demonstrated strong positive correlation of autism severity with the severity of GI dysfunction. Probiotic diet supplementation normalized the Bacteroidetes/Firmicutes ratio, Desulfovibrio spp. and the amount of Bifidobacterium spp. in feces of autistic children. We did not find any correlation between plasma levels of oxytocin, testosterone, DHEA-S and fecal microbiota, which would suggest their combined influence on autism development. This pilot study suggests the role of gut microbiota in autism as a part of the "gut-brain" axis and it is a basis for further investigation of the combined effect of microbial, genetic, and hormonal changes for development and clinical manifestation of autism., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Published
2015
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7. Reelin and its complex involvement in brain development and function.

Author

Lakatosova S and Ostatnikova D

Subjects
Animals, Brain physiology, Cell Adhesion Molecules, Neuronal chemistry, Disease, Extracellular Matrix Proteins chemistry, Gene Expression Regulation, Humans, Nerve Tissue Proteins chemistry, Reelin Protein, Serine Endopeptidases chemistry, Brain growth & development, Brain metabolism, Cell Adhesion Molecules, Neuronal metabolism, Extracellular Matrix Proteins metabolism, Nerve Tissue Proteins metabolism, Serine Endopeptidases metabolism
Abstract

Reelin is a neuroprotein with crucial role during neurodevelopment and also in postnatal period. It regulates neuronal migration and positioning in developing neocortex and cerebellar cortex. Postnatally it participates in regulation of dendritic and axonal growth, synaptogenesis, neurotransmission and it contribute to synaptic plasticity necessary for learning and memory functions. Role of Reelin seems to be rather complex, profound research gradually uncovers its further functions. Deficits of Reelin were detected in neuropsychiatric disorders such as schizophrenia, bipolar disorder and autism. Pathogenesis of these disorders is far from being clearly understood. Reelin contribution to these diseases seems to be vital, since genetic variants of Reelin were associated with these diseases and often influence symptom severity. Reelin is a promising candidate molecule with potential future use in diagnostics and therapy, however further detailed research is essential., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Published
2012
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8. The impact of serotonergic stimulation on reelin and glutamate decarboxylase gene expression in adult female rats.

Author

Lakatosova S, Celec P, Schmidtova E, Kubranska A, Durdiakova J, and Ostatnikova D

Subjects
Animals, Autistic Disorder genetics, Behavior, Animal drug effects, Cell Adhesion Molecules, Neuronal metabolism, Extracellular Matrix Proteins metabolism, Female, Glutamate Decarboxylase metabolism, Humans, Nerve Tissue Proteins metabolism, Rats, Reelin Protein, Serine Endopeptidases metabolism, Serotonin Receptor Agonists pharmacology, 5-Methoxytryptamine pharmacology, Brain metabolism, Cell Adhesion Molecules, Neuronal genetics, Extracellular Matrix Proteins genetics, Gene Expression drug effects, Glutamate Decarboxylase genetics, Nerve Tissue Proteins genetics, Serine Endopeptidases genetics, Serotonin Agents pharmacology
Abstract

Background: Reelin plays an important role in the regulation of synaptic plasticity in adulthood. Administration of 5-metoxytryptamine (5MT), an agonist of serotonin receptors, during natal and neonatal periods results in decreased reelin expression. In adulthood, reelin is expressed by GABAergic neurons., Objectives: The purpose of this study was to reveal the effect of elevated serotonergic stimulation on the expression of reelin and glutamate decarboxylase (GAD1) in adulthood as well as on depressive behavior and spatial cognitive abilities in adult female rats., Methods: Rats were injected with 5MT. A forced swimming test was used for evaluation of the depressive behavior and Morris water maze test was used for evaluation of spatial cognition. Brains were used for measuring the expression of reelin and GAD1., Results: We found a significant decrease in reelin expression in the cerebellum and prefrontal cortex of 5MT-treated rats. GAD1 expression was decreased in the cerebellum of 5MT-treated rats. 5MT-treated rats reached a lower immobility score in the forced swimming test. The Morris water maze test did not reveal any significant differences., Conclusion: We have shown that administration of serotonin receptor agonist resulted in a decreased RELN and GAD1 expression in the cerebellum of adult female rats. We propose that this phenomenon might be relevant in the pathogenesis of autism (Fig. 3, Ref. 38). Full Text in free PDF www.bmj.sk.

Published
2011

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