29 recherche sur le mot-clé 'DNA methylation'

DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects / Dubravka HRANILOVIC in Autism Research, 9-2 (February 2016)  

Public ISBD [article]  inAutism Research > 9-2 (February 2016) . - p.204-209 Titre : DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects Type de document : Texte imprimé et/ou numérique Auteurs : Dubravka HRANILOVIC, Auteur ; Sofia BLAZEVIC, Auteur ; Jasminka STEFULJ, Auteur ; Peter ZILL, Auteur Article en page(s) : p.204-209 Langues : Anglais (eng) Mots-clés : autism  serotonin  HTR2A  DNA methylation  epigenetics Index. décimale : PER Périodiques Résumé : Disturbed brain and peripheral serotonin homeostasis is often found in subjects with autism spectrum disorder (ASD). The role of the serotonin receptor 2A (HTR2A) in the regulation of central and peripheral serotonin homeostasis, as well as its altered expression in autistic subjects, have implicated the HTR2A gene as a major candidate for the serotonin disturbance seen in autism. Several studies, yielding so far inconclusive results, have attempted to associate autism with a functional SNP ?1438 G/A (rs6311) in the HTR2A promoter region, while possible contribution of epigenetic mechanisms, such as DNA methylation, to HTR2A dysregulation in autism has not yet been investigated. In this study, we compared the mean DNA methylation within the regulatory region of the HTR2A gene between autistic and control subjects. DNA methylation was analysed in peripheral blood leukocytes using bisulfite conversion and sequencing of the HTR2A region containing rs6311 polymorphism. Autistic subjects of rs6311 AG genotype displayed higher mean methylation levels within the analysed region than the corresponding controls (P? En ligne : http://dx.doi.org/10.1002/aur.1519 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 [article] DNA Methylation Analysis of HTR2A Regulatory Region in Leukocytes of Autistic Subjects [Texte imprimé et/ou numérique] / Dubravka HRANILOVIC, Auteur ; Sofia BLAZEVIC, Auteur ; Jasminka STEFULJ, Auteur ; Peter ZILL, Auteur . - p.204-209. Langues : Anglais (eng) in Autism Research > 9-2 (February 2016) . - p.204-209 Mots-clés : autism  serotonin  HTR2A  DNA methylation  epigenetics Index. décimale : PER Périodiques Résumé : Disturbed brain and peripheral serotonin homeostasis is often found in subjects with autism spectrum disorder (ASD). The role of the serotonin receptor 2A (HTR2A) in the regulation of central and peripheral serotonin homeostasis, as well as its altered expression in autistic subjects, have implicated the HTR2A gene as a major candidate for the serotonin disturbance seen in autism. Several studies, yielding so far inconclusive results, have attempted to associate autism with a functional SNP ?1438 G/A (rs6311) in the HTR2A promoter region, while possible contribution of epigenetic mechanisms, such as DNA methylation, to HTR2A dysregulation in autism has not yet been investigated. In this study, we compared the mean DNA methylation within the regulatory region of the HTR2A gene between autistic and control subjects. DNA methylation was analysed in peripheral blood leukocytes using bisulfite conversion and sequencing of the HTR2A region containing rs6311 polymorphism. Autistic subjects of rs6311 AG genotype displayed higher mean methylation levels within the analysed region than the corresponding controls (P? En ligne : http://dx.doi.org/10.1002/aur.1519 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282

DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort / Sofia STATHOPOULOS in Autism Research, 13-7 (July 2020)  

Public ISBD [article]  inAutism Research > 13-7 (July 2020) . - p.1079-1093 Titre : DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort Type de document : Texte imprimé et/ou numérique Auteurs : Sofia STATHOPOULOS, Auteur ; Renaud GAUJOUX, Auteur ; Zander LINDEQUE, Auteur ; Caitlyn MAHONY, Auteur ; Rachelle VAN DER COLFF, Auteur ; Francois VAN DER WESTHUIZEN, Auteur ; Colleen O'RYAN, Auteur Article en page(s) : p.1079-1093 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  DNA methylation  Pccb  Pcdha12  epigenetics  metabolomic profiles  mitochondrial dysfunction  organic acids Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ASD in South African children. An exploratory whole-epigenome methylation screen using the Illumina 450?K MethylationArray identified differentially methylated CpG sites between ASD and controls that mapped to 898 genes (P ??0.05) which were enriched for nine canonical pathways converging on mitochondrial metabolism and protein ubiquitination. Targeted Next Generation Bisulfite Sequencing of 27 genes confirmed differential methylation between ASD and control in our cohort. DNA pyrosequencing of two of these genes, the mitochondrial enzyme Propionyl-CoA Carboxylase subunit Beta (PCCB) and Protocadherin Alpha 12 (PCDHA12), revealed a wide range of methylation levels (9-49% and 0-54%, respectively) in both ASD and controls. Three CpG loci were differentially methylated in PCCB (P ??0.05), while PCDHA12, previously linked to ASD, had two significantly different CpG sites (P ??0.001) between ASD and control. Differentially methylated CpGs were hypomethylated in ASD. Metabolomic analysis of urinary organic acids revealed that three metabolites, 3-hydroxy-3-methylglutaric acid (P =?0.008), 3-methyglutaconic acid (P =?0.018), and ethylmalonic acid (P =?0.043) were significantly elevated in individuals with ASD. These metabolites are directly linked to mitochondrial respiratory chain disorders, with a putative link to PCCB, consistent with impaired mitochondrial function. Our data support an association between DNA methylation and mitochondrial dysfunction in the etiology of ASD. Autism Res 2020, 13: 1079-1093. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Epigenetic changes are chemical modifications of DNA which can change gene function. DNA methylation, a type of epigenetic modification, is linked to autism. We examined DNA methylation in South African children with autism and identified mitochondrial genes associated with autism. Mitochondria are power-suppliers in cells and mitochondrial genes are essential to metabolism and energy production, which are important for brain cells during development. Our findings suggest that some individuals with ASD also have mitochondrial dysfunction. En ligne : http://dx.doi.org/10.1002/aur.2310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429 [article] DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort [Texte imprimé et/ou numérique] / Sofia STATHOPOULOS, Auteur ; Renaud GAUJOUX, Auteur ; Zander LINDEQUE, Auteur ; Caitlyn MAHONY, Auteur ; Rachelle VAN DER COLFF, Auteur ; Francois VAN DER WESTHUIZEN, Auteur ; Colleen O'RYAN, Auteur . - p.1079-1093. Langues : Anglais (eng) in Autism Research > 13-7 (July 2020) . - p.1079-1093 Mots-clés : Autism Spectrum Disorder  DNA methylation  Pccb  Pcdha12  epigenetics  metabolomic profiles  mitochondrial dysfunction  organic acids Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ASD in South African children. An exploratory whole-epigenome methylation screen using the Illumina 450?K MethylationArray identified differentially methylated CpG sites between ASD and controls that mapped to 898 genes (P ??0.05) which were enriched for nine canonical pathways converging on mitochondrial metabolism and protein ubiquitination. Targeted Next Generation Bisulfite Sequencing of 27 genes confirmed differential methylation between ASD and control in our cohort. DNA pyrosequencing of two of these genes, the mitochondrial enzyme Propionyl-CoA Carboxylase subunit Beta (PCCB) and Protocadherin Alpha 12 (PCDHA12), revealed a wide range of methylation levels (9-49% and 0-54%, respectively) in both ASD and controls. Three CpG loci were differentially methylated in PCCB (P ??0.05), while PCDHA12, previously linked to ASD, had two significantly different CpG sites (P ??0.001) between ASD and control. Differentially methylated CpGs were hypomethylated in ASD. Metabolomic analysis of urinary organic acids revealed that three metabolites, 3-hydroxy-3-methylglutaric acid (P =?0.008), 3-methyglutaconic acid (P =?0.018), and ethylmalonic acid (P =?0.043) were significantly elevated in individuals with ASD. These metabolites are directly linked to mitochondrial respiratory chain disorders, with a putative link to PCCB, consistent with impaired mitochondrial function. Our data support an association between DNA methylation and mitochondrial dysfunction in the etiology of ASD. Autism Res 2020, 13: 1079-1093. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Epigenetic changes are chemical modifications of DNA which can change gene function. DNA methylation, a type of epigenetic modification, is linked to autism. We examined DNA methylation in South African children with autism and identified mitochondrial genes associated with autism. Mitochondria are power-suppliers in cells and mitochondrial genes are essential to metabolism and energy production, which are important for brain cells during development. Our findings suggest that some individuals with ASD also have mitochondrial dysfunction. En ligne : http://dx.doi.org/10.1002/aur.2310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429

DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders / M. T. SIU in Journal of Autism and Developmental Disorders, 51-10 (October 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3610-3623 Titre : DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : M. T. SIU, Auteur ; S. J. GOODMAN, Auteur ; I. YELLAN, Auteur ; D. T. BUTCHER, Auteur ; M. JANGJOO, Auteur ; D. GRAFODATSKAYA, Auteur ; R. RAJENDRAM, Auteur ; Y. LOU, Auteur ; R. ZHANG, Auteur ; C. ZHAO, Auteur ; R. NICOLSON, Auteur ; S. GEORGIADES, Auteur ; P. SZATMARI, Auteur ; Stephen SCHERER, Auteur ; W. ROBERTS, Auteur ; Evdokia ANAGNOSTOU, Auteur ; R. WEKSBERG, Auteur Article en page(s) : p.3610-3623 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  DNA Methylation  Female  Humans  Male  Obsessive-Compulsive Disorder  Oxytocin/metabolism  Receptors, Oxytocin/genetics  Adhd  Asd  Ocd  Oxtr Index. décimale : PER Périodiques Résumé : Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, OXTR, in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD) and obsessive compulsive (OCD) disorders. DNAm of OXTR was assessed for cohorts of ASD (blood), ADHD (saliva), OCD (saliva), which uncovered sex-specific DNAm differences compared to neurotypical, tissue-matched controls. Individuals with ASD or ADHD exhibiting extreme DNAm values had lower IQ and more social problems, respectively, than those with DNAm within normative ranges. This suggests that OXTR DNAm patterns are altered across NDDs and may be correlated with common clinical outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04792-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / M. T. SIU, Auteur ; S. J. GOODMAN, Auteur ; I. YELLAN, Auteur ; D. T. BUTCHER, Auteur ; M. JANGJOO, Auteur ; D. GRAFODATSKAYA, Auteur ; R. RAJENDRAM, Auteur ; Y. LOU, Auteur ; R. ZHANG, Auteur ; C. ZHAO, Auteur ; R. NICOLSON, Auteur ; S. GEORGIADES, Auteur ; P. SZATMARI, Auteur ; Stephen SCHERER, Auteur ; W. ROBERTS, Auteur ; Evdokia ANAGNOSTOU, Auteur ; R. WEKSBERG, Auteur . - p.3610-3623. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3610-3623 Mots-clés : Attention Deficit Disorder with Hyperactivity/genetics  Autism Spectrum Disorder/genetics  DNA Methylation  Female  Humans  Male  Obsessive-Compulsive Disorder  Oxytocin/metabolism  Receptors, Oxytocin/genetics  Adhd  Asd  Ocd  Oxtr Index. décimale : PER Périodiques Résumé : Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, OXTR, in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD) and obsessive compulsive (OCD) disorders. DNAm of OXTR was assessed for cohorts of ASD (blood), ADHD (saliva), OCD (saliva), which uncovered sex-specific DNAm differences compared to neurotypical, tissue-matched controls. Individuals with ASD or ADHD exhibiting extreme DNAm values had lower IQ and more social problems, respectively, than those with DNAm within normative ranges. This suggests that OXTR DNAm patterns are altered across NDDs and may be correlated with common clinical outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04792-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Characterization of the effects of age and childhood maltreatment on ELOVL2 DNA methylation / Laura RAMO-FERNANDEZ in Development and Psychopathology, 34-3 (August 2022)  

Public ISBD [article]  inDevelopment and Psychopathology > 34-3 (August 2022) . - p.864-874 Titre : Characterization of the effects of age and childhood maltreatment on ELOVL2 DNA methylation Type de document : Texte imprimé et/ou numérique Auteurs : Laura RAMO-FERNANDEZ, Auteur ; Alexander KARABATSIAKIS, Auteur ; Christina BOECK, Auteur ; Alexandra M. BACH, Auteur ; Anja M. GUMPP, Auteur ; R. Nehir MAVIOGLU, Auteur ; Ole AMMERPOHL, Auteur ; Iris-Tatjana KOLASSA, Auteur Article en page(s) : p.864-874 Langues : Anglais (eng) Mots-clés : childhood maltreatment  epigenetics  psychoneuroendocrinology  accelerated aging  DNA methylation Index. décimale : PER Périodiques Résumé : DNA methylation of the elongation of very long chain fatty acids protein 2 (ELOVL2) was suggested as a biomarker of biological aging, while childhood maltreatment (CM) has been associated with accelerated biological aging. We investigated the association of age and CM experiences with ELOVL2 methylation in peripheral blood mononuclear cells (PBMC). Furthermore, we investigated ELOVL2 methylation in the umbilical cord blood mononuclear cells (UBMC) of newborns of mothers with and without CM. PBMC and UBMC were isolated from 113 mother “newborn dyads and genomic DNA was extracted. Mothers with and without CM experiences were recruited directly postpartum. Mass array spectrometry and pyrosequencing were used for methylation analyses of ELOVL2 intron 1, and exon 1 and 5 2 end, respectively. ELOVL2 5 2 end and intron 1 methylation increased with higher age but were not associated with CM experiences. On the contrary, overall ELOVL2 exon 1 methylation increased with higher CM, but these changes were minimal and did not increase with age. Maternal CM experiences and neonatal methylation of ELOVL2 intron 1 or exon 1 were not significantly correlated. Our study suggests region-specific effects of chronological age and experienced CM on ELOVL2 methylation and shows that the epigenetic biomarker for age within the ELOVL2 gene does not show accelerated biological aging years after CM exposure. En ligne : http://dx.doi.org/10.1017/S0954579420001972 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484 [article] Characterization of the effects of age and childhood maltreatment on ELOVL2 DNA methylation [Texte imprimé et/ou numérique] / Laura RAMO-FERNANDEZ, Auteur ; Alexander KARABATSIAKIS, Auteur ; Christina BOECK, Auteur ; Alexandra M. BACH, Auteur ; Anja M. GUMPP, Auteur ; R. Nehir MAVIOGLU, Auteur ; Ole AMMERPOHL, Auteur ; Iris-Tatjana KOLASSA, Auteur . - p.864-874. Langues : Anglais (eng) in Development and Psychopathology > 34-3 (August 2022) . - p.864-874 Mots-clés : childhood maltreatment  epigenetics  psychoneuroendocrinology  accelerated aging  DNA methylation Index. décimale : PER Périodiques Résumé : DNA methylation of the elongation of very long chain fatty acids protein 2 (ELOVL2) was suggested as a biomarker of biological aging, while childhood maltreatment (CM) has been associated with accelerated biological aging. We investigated the association of age and CM experiences with ELOVL2 methylation in peripheral blood mononuclear cells (PBMC). Furthermore, we investigated ELOVL2 methylation in the umbilical cord blood mononuclear cells (UBMC) of newborns of mothers with and without CM. PBMC and UBMC were isolated from 113 mother “newborn dyads and genomic DNA was extracted. Mothers with and without CM experiences were recruited directly postpartum. Mass array spectrometry and pyrosequencing were used for methylation analyses of ELOVL2 intron 1, and exon 1 and 5 2 end, respectively. ELOVL2 5 2 end and intron 1 methylation increased with higher age but were not associated with CM experiences. On the contrary, overall ELOVL2 exon 1 methylation increased with higher CM, but these changes were minimal and did not increase with age. Maternal CM experiences and neonatal methylation of ELOVL2 intron 1 or exon 1 were not significantly correlated. Our study suggests region-specific effects of chronological age and experienced CM on ELOVL2 methylation and shows that the epigenetic biomarker for age within the ELOVL2 gene does not show accelerated biological aging years after CM exposure. En ligne : http://dx.doi.org/10.1017/S0954579420001972 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484

Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways / Valerie W. HU in Autism, 25-4 (May 2021)  

Public ISBD [article]  inAutism > 25-4 (May 2021) . - p.887-910 Titre : Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways Type de document : Texte imprimé et/ou numérique Auteurs : Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur Article en page(s) : p.887-910 Langues : Anglais (eng) Mots-clés : DNA methylation  autism  autism spectrum disorder phenotype  differentially methylated genes  lymphoblastoid cells  promoter arrays  sex differences  signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways [Texte imprimé et/ou numérique] / Valerie W. HU, Auteur ; Yi HONG, Auteur ; Minyi XU, Auteur ; Henry T. SHU, Auteur . - p.887-910. Langues : Anglais (eng) in Autism > 25-4 (May 2021) . - p.887-910 Mots-clés : DNA methylation  autism  autism spectrum disorder phenotype  differentially methylated genes  lymphoblastoid cells  promoter arrays  sex differences  signaling and metabolic pathways Index. décimale : PER Périodiques Résumé : This study investigates altered DNA methylation that may contribute to autism spectrum disorders. DNA methylation is an epigenetic mechanism for regulating the level at which genes are expressed, and is thus complementary to genetics and gene expression analyses which look at the variations in gene structure and gene products in cells. Here, we identify DNA methylation differences between autistic and sex-matched non-autistic siblings, focusing on a subgroup of severely affected individuals with language impairment to reduce the clinical heterogeneity among the cases. Our results show significant differentially methylated genes between the sibling groups that are enriched in autism risk genes as well as in signaling and biochemical pathways previously associated with the pathobiology of autism spectrum disorders. Moreover, we show for the first time that these differences are in part sex dependent, with differentially methylated genes in females associated with pathways that implicate mitochondrial dysfunction and metabolic disorders that may offer some protection to females against autism spectrum disorders. Further investigations of sex differences are required to develop a fuller understanding of the pathobiology, gene regulatory mechanisms, and differential susceptibility of males and females toward autism spectrum disorders. En ligne : http://dx.doi.org/10.1177/1362361320971085 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

Annual Research Review: DNA methylation as a mediator in the association between risk exposure and child and adolescent psychopathology / Edward D. BARKER in Journal of Child Psychology and Psychiatry, 59-4 (April 2018)  

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Case-control meta-analysis of blood DNA methylation and autism spectrum disorder / S. V. ANDREWS in Molecular Autism, 9 (2018)  

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Genome-wide DNA methylation analysis of aggressive behaviour: a longitudinal population-based study / Ehsan PISHVA in Journal of Child Psychology and Psychiatry, 64-7 (July 2023)  

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Genome-wide DNA methylation patterns associated with sleep and mental health in children: a population-based study / Maria Elisabeth KOOPMAN-VERHOEFF in Journal of Child Psychology and Psychiatry, 61-10 (October 2020)  

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Oxytocin receptor gene (OXTR) DNA methylation is associated with autism and related social traits – A systematic review / Matthijs MOERKERKE in Research in Autism Spectrum Disorders, 85 (July 2021)  

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