12 recherche sur le mot-clé 'Epigenesis, Genetic'

Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation / Sophia LENZ in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation Type de document : texte imprimé Auteurs : Sophia LENZ, Auteur ; Ajilan SIVALOGANATHAN, Auteur ; Sarah J. GOODMAN, Auteur ; Cheryl CYTRYNBAUM, Auteur ; Jesiqua RAPLEY, Auteur ; Emma CANNING, Auteur ; Danielle BARIBEAU, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Female  Male  Epigenesis, Genetic  Psychotropic Drugs/therapeutic use/adverse effects  Intellectual Disability/genetics/drug therapy  Child, Preschool  Adolescent  Chromatin/genetics  Autistic Disorder/genetics/drug therapy  Autism Spectrum Disorder/genetics/drug therapy  Autism  Behavioural disorders  Epigenetic regulation  Psychopharmacology  Rare genetic neurodevelopmental disorders  by the Research Ethics Board at Holland Bloorview Kids Rehabilitation Hospital.  Competing interests: DB is the site lead for a clinical trial funded by MapLight  Therapeutics. The remaining authors declare no potential competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of this study was to examine and compare behavioural profiles and longitudinal psychotropic treatment patterns in children with epigenetic/chromatin variants, other rare variants impacting neurodevelopment, or no known genetic condition. METHODS: Using electronic medical records from a pediatric psychopharmacology program for children with autism or intellectual disability, we compared clinical characteristics, longitudinal psychotropic medication profiles and side effects between those with and without a rare genetic variant, and by variant subtype [epigenetic/chromatin regulation or other variant]. RESULTS: A total of 331 children attended 2724 unique medical visits between 2019 and 2022, with a mean of 8 follow-up visits over 3.4 years. Nine children (3%) had variants in epigenetic/chromatin regulatory genes (EC), twenty-three children (7%) had other rare genetic variants (OTH), and the rest had no reported variant (NR, n = 299, 90%). Those with a rare genetic variant (EC or OTH) were more likely to have an intellectual disability and had a greater number of co-occurring physical health conditions (p < 0.01). Overall, 66% of psychotropic medications were continued for ≥ 3 visits, while 26% were discontinued. Rates of psychotropic polypharmacy, medication patterns, behavioural challenges, and co-occurring developmental diagnoses were similar between genetic groups. Analyses uncorrected for multiple comparisons suggested those with genetic variants were more likely to experience drowsiness/sedation as a side effect (EC 33%, OTH 35%, NR 16%, p < 0.05); weight gain as a side effect was also higher in the epigenetic/chromatin group (EC 50% vs OTH 11%). CONCLUSION: Genetic classification of neurodevelopmental disorders (NDDs) may help anticipate treatment tolerability; additional prescribing considerations may be needed for those with rare variants. Current psychotropic prescribing practices do not differ across rare genetic NDD subgroups. En ligne : https://dx.doi.org/10.1186/s11689-025-09605-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation [texte imprimé] / Sophia LENZ, Auteur ; Ajilan SIVALOGANATHAN, Auteur ; Sarah J. GOODMAN, Auteur ; Cheryl CYTRYNBAUM, Auteur ; Jesiqua RAPLEY, Auteur ; Emma CANNING, Auteur ; Danielle BARIBEAU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Female  Male  Epigenesis, Genetic  Psychotropic Drugs/therapeutic use/adverse effects  Intellectual Disability/genetics/drug therapy  Child, Preschool  Adolescent  Chromatin/genetics  Autistic Disorder/genetics/drug therapy  Autism Spectrum Disorder/genetics/drug therapy  Autism  Behavioural disorders  Epigenetic regulation  Psychopharmacology  Rare genetic neurodevelopmental disorders  by the Research Ethics Board at Holland Bloorview Kids Rehabilitation Hospital.  Competing interests: DB is the site lead for a clinical trial funded by MapLight  Therapeutics. The remaining authors declare no potential competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of this study was to examine and compare behavioural profiles and longitudinal psychotropic treatment patterns in children with epigenetic/chromatin variants, other rare variants impacting neurodevelopment, or no known genetic condition. METHODS: Using electronic medical records from a pediatric psychopharmacology program for children with autism or intellectual disability, we compared clinical characteristics, longitudinal psychotropic medication profiles and side effects between those with and without a rare genetic variant, and by variant subtype [epigenetic/chromatin regulation or other variant]. RESULTS: A total of 331 children attended 2724 unique medical visits between 2019 and 2022, with a mean of 8 follow-up visits over 3.4 years. Nine children (3%) had variants in epigenetic/chromatin regulatory genes (EC), twenty-three children (7%) had other rare genetic variants (OTH), and the rest had no reported variant (NR, n = 299, 90%). Those with a rare genetic variant (EC or OTH) were more likely to have an intellectual disability and had a greater number of co-occurring physical health conditions (p < 0.01). Overall, 66% of psychotropic medications were continued for ≥ 3 visits, while 26% were discontinued. Rates of psychotropic polypharmacy, medication patterns, behavioural challenges, and co-occurring developmental diagnoses were similar between genetic groups. Analyses uncorrected for multiple comparisons suggested those with genetic variants were more likely to experience drowsiness/sedation as a side effect (EC 33%, OTH 35%, NR 16%, p < 0.05); weight gain as a side effect was also higher in the epigenetic/chromatin group (EC 50% vs OTH 11%). CONCLUSION: Genetic classification of neurodevelopmental disorders (NDDs) may help anticipate treatment tolerability; additional prescribing considerations may be needed for those with rare variants. Current psychotropic prescribing practices do not differ across rare genetic NDD subgroups. En ligne : https://dx.doi.org/10.1186/s11689-025-09605-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 40p. Titre : Case-control meta-analysis of blood DNA methylation and autism spectrum disorder Type de document : texte imprimé Auteurs : Shan V. ANDREWS, Auteur ; Brooke SHEPPARD, Auteur ; Gayle C. WINDHAM, Auteur ; Laura A. SCHIEVE, Auteur ; Diana SCHENDEL, Auteur ; Lisa A. CROEN, Auteur ; Pankaj CHOPRA, Auteur ; Reid S. ALISCH, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Stephen T. WARREN, Auteur ; Andrew P. FEINBERG, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur Article en page(s) : 40p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child, Preschool  CpG Islands  DNA Methylation  Epigenesis, Genetic  Female  Genome-Wide Association Study  Humans  Male  Autism spectrum disorders  Epigenome  Peripheral blood  Simons Simplex Collection  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. Methods: DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. Findings: In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p < 1.12 x 10(- 7). Seven CpGs showed differences at p < 1 x 10(- 5) and 48 at 1 x 10(- 4). Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r = 0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds. Conclusions: No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0224-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Case-control meta-analysis of blood DNA methylation and autism spectrum disorder [texte imprimé] / Shan V. ANDREWS, Auteur ; Brooke SHEPPARD, Auteur ; Gayle C. WINDHAM, Auteur ; Laura A. SCHIEVE, Auteur ; Diana SCHENDEL, Auteur ; Lisa A. CROEN, Auteur ; Pankaj CHOPRA, Auteur ; Reid S. ALISCH, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Stephen T. WARREN, Auteur ; Andrew P. FEINBERG, Auteur ; M. Daniele FALLIN, Auteur ; Christine LADD-ACOSTA, Auteur . - 40p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 40p. Mots-clés : Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child, Preschool  CpG Islands  DNA Methylation  Epigenesis, Genetic  Female  Genome-Wide Association Study  Humans  Male  Autism spectrum disorders  Epigenome  Peripheral blood  Simons Simplex Collection  Study to Explore Early Development Index. décimale : PER Périodiques Résumé : Background: Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies. Methods: DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample. Findings: In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p < 1.12 x 10(- 7). Seven CpGs showed differences at p < 1 x 10(- 5) and 48 at 1 x 10(- 4). Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r = 0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds. Conclusions: No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD. En ligne : https://dx.doi.org/10.1186/s13229-018-0224-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

DNA methylation biomarkers of intellectual/developmental disability across the lifespan / Janine M. LASALLE in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : DNA methylation biomarkers of intellectual/developmental disability across the lifespan Type de document : texte imprimé Auteurs : Janine M. LASALLE, Auteur Langues : Anglais (eng) Mots-clés : Humans  DNA Methylation  Intellectual Disability/genetics/diagnosis/metabolism  Developmental Disabilities/genetics/diagnosis/metabolism  Biomarkers/metabolism  Epigenesis, Genetic  Female  Pregnancy  Aging  Autism  Biomarkers  Cell free DNA  Cord blood  DNA methylation  Down syndrome  Dup15q syndrome  Epigenetic clock  Epigenetics  Exposure  Genomic  Placenta  for publication: Not applicable. Competing interests: Dr. LaSalle is a co-founder  and Chief Scientific Officer at 2C Bioscience Inc. Index. décimale : PER Périodiques Résumé : Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age. En ligne : https://dx.doi.org/10.1186/s11689-025-09598-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] DNA methylation biomarkers of intellectual/developmental disability across the lifespan [texte imprimé] / Janine M. LASALLE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  DNA Methylation  Intellectual Disability/genetics/diagnosis/metabolism  Developmental Disabilities/genetics/diagnosis/metabolism  Biomarkers/metabolism  Epigenesis, Genetic  Female  Pregnancy  Aging  Autism  Biomarkers  Cell free DNA  Cord blood  DNA methylation  Down syndrome  Dup15q syndrome  Epigenetic clock  Epigenetics  Exposure  Genomic  Placenta  for publication: Not applicable. Competing interests: Dr. LaSalle is a co-founder  and Chief Scientific Officer at 2C Bioscience Inc. Index. décimale : PER Périodiques Résumé : Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on a wide range of human biospecimens are beginning to identify epigenetic biomarkers that can predict risk of intellectual/developmental disabilities (IDD). DNA methylation-based epigenetic signatures are becoming clinically useful in categorizing benign from pathogenic genetic variants following exome sequencing. While DNA methylation marks differ by tissue source, recent studies have shown that accessible perinatal tissues, such as placenta, cord blood, newborn blood spots, and cell free DNA may serve as accessible surrogate tissues for testing epigenetic biomarkers relevant to understanding genetic, environmental, and gene by environment interactions on the developing brain. These DNA methylation signatures may also provide important information about the biological pathways that become dysregulated prior to disease progression that could be used to develop early pharmacological interventions. Future applications could involve preventative screenings using DNA methylation biomarkers during pregnancy or the newborn period for IDDs and other neurodevelopmental disorders. DNA methylation biomarkers in adolescence and adulthood are also likely to be clinically useful for tracking biological aging or co-occurring health conditions that develop across the lifespan. In conclusion, DNA methylation biomarkers are expected to become more common in clinical diagnoses of IDD, to improve understanding of complex IDD etiologies, to improve endpoints for clinical trials, and to monitor potential health concerns for individuals with IDD as they age. En ligne : https://dx.doi.org/10.1186/s11689-025-09598-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Epigenetic aging in Williams syndrome / Satoshi OKAZAKI in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1553-1562 Titre : Epigenetic aging in Williams syndrome Type de document : texte imprimé Auteurs : Satoshi OKAZAKI, Auteur ; Ryo KIMURA, Auteur ; Ikuo OTSUKA, Auteur ; Kiyotaka TOMIWA, Auteur ; Yasuko FUNABIKI, Auteur ; Masatoshi HAGIWARA, Auteur ; Toshiya MURAI, Auteur ; Akitoyo HISHIMOTO, Auteur Article en page(s) : p.1553-1562 Langues : Anglais (eng) Mots-clés : Humans  Williams Syndrome/genetics  Aging/genetics  DNA Methylation/genetics  Biomarkers  Epigenesis, Genetic  Aging  Williams syndrome  epigenetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion at the 7q11.23 region and is characterized by diverse symptoms encompassing physical and cognitive features. WS was reported to be associated to altered DNA methylation (DNAm) patterns. However, due to the limited information from long-term studies, it remains unclear whether WS accelerates aging. Genome-wide DNAm profiles can serve as "epigenetic clocks" to help estimate biological aging along with age-related markers, such as plasma proteins and telomere length. METHODS: We investigated GrimAge, DNAm-based telomere length (DNAmTL), and other epigenetic clocks in blood samples of 32 patients with WS and 32 healthy controls. RESULTS: We observed a significant acceleration in GrimAge, DNAmTL, and other epigenetic clocks in patients with WS as compared with those of controls. In addition, several GrimAge components, such as adrenomedullin, growth differentiation factor-15, leptin and plasminogen activator inhibitor-1, were altered in patients with WS. CONCLUSIONS: This study provides novel evidence supporting the hypothesis that WS may be associated to accelerated biological aging. A better understanding of the overall underlying biological effects of WS can provide new foundations for improved patient care; thus, long-term follow-up studies are still warranted. En ligne : http://dx.doi.org/10.1111/jcpp.13613 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 [article] Epigenetic aging in Williams syndrome [texte imprimé] / Satoshi OKAZAKI, Auteur ; Ryo KIMURA, Auteur ; Ikuo OTSUKA, Auteur ; Kiyotaka TOMIWA, Auteur ; Yasuko FUNABIKI, Auteur ; Masatoshi HAGIWARA, Auteur ; Toshiya MURAI, Auteur ; Akitoyo HISHIMOTO, Auteur . - p.1553-1562. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-12 (December 2022) . - p.1553-1562 Mots-clés : Humans  Williams Syndrome/genetics  Aging/genetics  DNA Methylation/genetics  Biomarkers  Epigenesis, Genetic  Aging  Williams syndrome  epigenetics Index. décimale : PER Périodiques Résumé : BACKGROUND: Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion at the 7q11.23 region and is characterized by diverse symptoms encompassing physical and cognitive features. WS was reported to be associated to altered DNA methylation (DNAm) patterns. However, due to the limited information from long-term studies, it remains unclear whether WS accelerates aging. Genome-wide DNAm profiles can serve as "epigenetic clocks" to help estimate biological aging along with age-related markers, such as plasma proteins and telomere length. METHODS: We investigated GrimAge, DNAm-based telomere length (DNAmTL), and other epigenetic clocks in blood samples of 32 patients with WS and 32 healthy controls. RESULTS: We observed a significant acceleration in GrimAge, DNAmTL, and other epigenetic clocks in patients with WS as compared with those of controls. In addition, several GrimAge components, such as adrenomedullin, growth differentiation factor-15, leptin and plasminogen activator inhibitor-1, were altered in patients with WS. CONCLUSIONS: This study provides novel evidence supporting the hypothesis that WS may be associated to accelerated biological aging. A better understanding of the overall underlying biological effects of WS can provide new foundations for improved patient care; thus, long-term follow-up studies are still warranted. En ligne : http://dx.doi.org/10.1111/jcpp.13613 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490

Epigenetics modifiers: potential hub for understanding and treating neurodevelopmental disorders from hypoxic injury / Ana G. CRISTANCHO in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Epigenetics modifiers: potential hub for understanding and treating neurodevelopmental disorders from hypoxic injury Type de document : texte imprimé Auteurs : Ana G. CRISTANCHO, Auteur ; Eric D. MARSH, Auteur Langues : Anglais (eng) Mots-clés : Brain  Child  DNA Methylation  Epigenesis, Genetic  Humans  Hypoxia  Infant, Newborn  Neurodevelopmental Disorders  Brain development  Epigenetics  Histone modification  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: The fetal brain is adapted to the hypoxic conditions present during normal in utero development. Relatively more hypoxic states, either chronic or acute, are pathologic and can lead to significant long-term neurodevelopmental sequelae. In utero hypoxic injury is associated with neonatal mortality and millions of lives lived with varying degrees of disability. MAIN BODY: Genetic studies of children with neurodevelopmental disease indicate that epigenetic modifiers regulating DNA methylation and histone remodeling are critical for normal brain development. Epigenetic modifiers are also regulated by environmental stimuli, such as hypoxia. Indeed, epigenetic modifiers that are mutated in children with genetic neurodevelopmental diseases are regulated by hypoxia in a number of preclinical models and may be part of the mechanism for the long-term neurodevelopmental sequelae seem in children with hypoxic brain injury. Thus, a comprehensive understanding the role of DNA methylation and histone modifications in hypoxic injury is critical for developing novel strategies to treat children with hypoxic injury. CONCLUSIONS: This review focuses on our current understanding of the intersection between epigenetics, brain development, and hypoxia. Opportunities for the use of epigenetics as biomarkers of neurodevelopmental disease after hypoxic injury and potential clinical epigenetics targets to improve outcomes after injury are also discussed. While there have been many published studies on the epigenetics of hypoxia, more are needed in the developing brain in order to determine which epigenetic pathways may be most important for mitigating the long-term consequences of hypoxic brain injury. En ligne : https://dx.doi.org/10.1186/s11689-020-09344-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Epigenetics modifiers: potential hub for understanding and treating neurodevelopmental disorders from hypoxic injury [texte imprimé] / Ana G. CRISTANCHO, Auteur ; Eric D. MARSH, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Brain  Child  DNA Methylation  Epigenesis, Genetic  Humans  Hypoxia  Infant, Newborn  Neurodevelopmental Disorders  Brain development  Epigenetics  Histone modification  Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: The fetal brain is adapted to the hypoxic conditions present during normal in utero development. Relatively more hypoxic states, either chronic or acute, are pathologic and can lead to significant long-term neurodevelopmental sequelae. In utero hypoxic injury is associated with neonatal mortality and millions of lives lived with varying degrees of disability. MAIN BODY: Genetic studies of children with neurodevelopmental disease indicate that epigenetic modifiers regulating DNA methylation and histone remodeling are critical for normal brain development. Epigenetic modifiers are also regulated by environmental stimuli, such as hypoxia. Indeed, epigenetic modifiers that are mutated in children with genetic neurodevelopmental diseases are regulated by hypoxia in a number of preclinical models and may be part of the mechanism for the long-term neurodevelopmental sequelae seem in children with hypoxic brain injury. Thus, a comprehensive understanding the role of DNA methylation and histone modifications in hypoxic injury is critical for developing novel strategies to treat children with hypoxic injury. CONCLUSIONS: This review focuses on our current understanding of the intersection between epigenetics, brain development, and hypoxia. Opportunities for the use of epigenetics as biomarkers of neurodevelopmental disease after hypoxic injury and potential clinical epigenetics targets to improve outcomes after injury are also discussed. While there have been many published studies on the epigenetics of hypoxia, more are needed in the developing brain in order to determine which epigenetic pathways may be most important for mitigating the long-term consequences of hypoxic brain injury. En ligne : https://dx.doi.org/10.1186/s11689-020-09344-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Placental methylome analysis from a prospective autism study / Diane I. SCHROEDER in Molecular Autism, 7 (2016)  

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Associations between accelerated parental biologic age, autism spectrum disorder, social traits, and developmental and cognitive outcomes in their children / Ashley Y. SONG in Autism Research, 15-12 (December 2022)  

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Early adversities accelerate epigenetic aging into adulthood: a 10-year, within-subject analysis / William E. COPELAND in Journal of Child Psychology and Psychiatry, 63-11 (November 2022)  

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Editorial: Accelerated epigenetic ageing as a consequence of early environmental adversity / Barbara FRANKE in Journal of Child Psychology and Psychiatry, 63-11 (November 2022)  

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Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery / Rowena NG in Journal of Neurodevelopmental Disorders, 15 (2023)  

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