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Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism / Stepan MELNYK in Journal of Autism and Developmental Disorders, 42-3 (March 2012)
[article]
Titre : Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Stepan MELNYK, Auteur ; George J. FUCHS, Auteur ; Eldon SCHULZ, Auteur ; Maya LOPEZ, Auteur ; Stephen G. KAHLER, Auteur ; Jill J. FUSSELL, Auteur ; Jayne BELLANDO, Auteur ; Oleksandra PAVLIV, Auteur ; Shannon ROSE, Auteur ; Lisa SEIDEL, Auteur ; David W. GAYLOR, Auteur ; S. Jill JAMES, Auteur Année de publication : 2012 Article en page(s) : p.367-377 Langues : Anglais (eng) Mots-clés : Autism Oxidative stress Metabolic Epigenetics Glutathione DNA methylation Index. décimale : PER Périodiques Résumé : Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. We investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in 68 children with autism, 54 age-matched control children and 40 unaffected siblings. The metabolic profile of unaffected siblings differed significantly from case siblings but not from controls. Oxidative protein/DNA damage and DNA hypomethylation (epigenetic alteration) were found in autistic children but not paired siblings or controls. These data indicate that the deficit in antioxidant and methylation capacity is specific for autism and may promote cellular damage and altered epigenetic gene expression. Further, these results suggest a plausible mechanism by which pro-oxidant environmental stressors may modulate genetic predisposition to autism. En ligne : http://dx.doi.org/10.1007/s10803-011-1260-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152
in Journal of Autism and Developmental Disorders > 42-3 (March 2012) . - p.367-377[article] Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism [Texte imprimé et/ou numérique] / Stepan MELNYK, Auteur ; George J. FUCHS, Auteur ; Eldon SCHULZ, Auteur ; Maya LOPEZ, Auteur ; Stephen G. KAHLER, Auteur ; Jill J. FUSSELL, Auteur ; Jayne BELLANDO, Auteur ; Oleksandra PAVLIV, Auteur ; Shannon ROSE, Auteur ; Lisa SEIDEL, Auteur ; David W. GAYLOR, Auteur ; S. Jill JAMES, Auteur . - 2012 . - p.367-377.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-3 (March 2012) . - p.367-377
Mots-clés : Autism Oxidative stress Metabolic Epigenetics Glutathione DNA methylation Index. décimale : PER Périodiques Résumé : Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. We investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in 68 children with autism, 54 age-matched control children and 40 unaffected siblings. The metabolic profile of unaffected siblings differed significantly from case siblings but not from controls. Oxidative protein/DNA damage and DNA hypomethylation (epigenetic alteration) were found in autistic children but not paired siblings or controls. These data indicate that the deficit in antioxidant and methylation capacity is specific for autism and may promote cellular damage and altered epigenetic gene expression. Further, these results suggest a plausible mechanism by which pro-oxidant environmental stressors may modulate genetic predisposition to autism. En ligne : http://dx.doi.org/10.1007/s10803-011-1260-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=152 Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders / Athina VERVERI in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
[article]
Titre : Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Athina VERVERI, Auteur ; Efthymia VARGIAMI, Auteur ; Vassiliki PAPADOPOULOU, Auteur ; Dimitrios TRYFONAS, Auteur ; Dimitrios I. ZAFEIRIOU, Auteur Année de publication : 2012 Article en page(s) : p.1470-1476 Langues : Anglais (eng) Mots-clés : Autism Genetic syndromes Metabolic Epilepsy Macrocephaly Index. décimale : PER Périodiques Résumé : The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5–9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population. En ligne : http://dx.doi.org/10.1007/s10803-011-1414-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1470-1476[article] Clinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Athina VERVERI, Auteur ; Efthymia VARGIAMI, Auteur ; Vassiliki PAPADOPOULOU, Auteur ; Dimitrios TRYFONAS, Auteur ; Dimitrios I. ZAFEIRIOU, Auteur . - 2012 . - p.1470-1476.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1470-1476
Mots-clés : Autism Genetic syndromes Metabolic Epilepsy Macrocephaly Index. décimale : PER Périodiques Résumé : The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5–9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population. En ligne : http://dx.doi.org/10.1007/s10803-011-1414-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166