3 recherche sur le mot-clé 'Biomarkers/metabolism'

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

Biomarker development in Sturge-Weber syndrome / Siddharth S. GUPTA in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Biomarker development in Sturge-Weber syndrome Type de document : texte imprimé Auteurs : Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Biomarker development in Sturge-Weber syndrome [texte imprimé] / Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 51p. Titre : Placental methylome analysis from a prospective autism study Type de document : texte imprimé Auteurs : Diane I. SCHROEDER, Auteur ; Rebecca J. SCHMIDT, Auteur ; Florence K. CRARY-DOOLEY, Auteur ; Cheryl K. WALKER, Auteur ; Sally OZONOFF, Auteur ; Daniel J. TANCREDI, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Janine M. LASALLE, Auteur Article en page(s) : 51p. Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Biomarkers/metabolism  Child, Preschool  DNA Methylation  Early Diagnosis  Enhancer Elements, Genetic  Epigenesis, Genetic  Female  Genome, Human  Genome-Wide Association Study  High-Throughput Nucleotide Sequencing  Humans  Infant, Newborn  Intercellular Signaling Peptides and Proteins/genetics/metabolism  Male  Membrane Proteins/genetics/metabolism  Placenta/metabolism  Pregnancy  Biomarkers  DNA methylation  Epigenetics  Genomics  Methylome  Placenta Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are increasingly prevalent neurodevelopmental disorders that are behaviorally diagnosed in early childhood. Most ASD cases likely arise from a complex mixture of genetic and environmental factors, an interface where the epigenetic marks of DNA methylation may be useful as risk biomarkers. The placenta is a potentially useful surrogate tissue characterized by a methylation pattern of partially methylated domains (PMDs) and highly methylated domains (HMDs) reflective of methylation patterns observed in the early embryo. METHODS: In this study, we investigated human term placentas from the MARBLES (Markers of Autism Risk in Babies: Learning Early Signs) prospective study by whole genome bisulfite sequencing. We also examined the utility of PMD/HMDs in detecting methylation differences consistent with ASD diagnosis at age three. RESULTS: We found that while human placental methylomes have highly reproducible PMD and HMD locations, there is a greater variation between individuals in methylation levels over PMDs than HMDs due to both sampling and individual variability. In a comparison of methylation differences in placental samples from 24 ASD and 23 typically developing (TD) children, a HMD containing a putative fetal brain enhancer near DLL1 was found to reach genome-wide significance and was validated for significantly higher methylation in ASD by pyrosequencing. CONCLUSIONS: These results suggest that the placenta could be an informative surrogate tissue for predictive ASD biomarkers in high-risk families. En ligne : http://dx.doi.org/10.1186/s13229-016-0114-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Placental methylome analysis from a prospective autism study [texte imprimé] / Diane I. SCHROEDER, Auteur ; Rebecca J. SCHMIDT, Auteur ; Florence K. CRARY-DOOLEY, Auteur ; Cheryl K. WALKER, Auteur ; Sally OZONOFF, Auteur ; Daniel J. TANCREDI, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Janine M. LASALLE, Auteur . - 51p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 51p. Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Biomarkers/metabolism  Child, Preschool  DNA Methylation  Early Diagnosis  Enhancer Elements, Genetic  Epigenesis, Genetic  Female  Genome, Human  Genome-Wide Association Study  High-Throughput Nucleotide Sequencing  Humans  Infant, Newborn  Intercellular Signaling Peptides and Proteins/genetics/metabolism  Male  Membrane Proteins/genetics/metabolism  Placenta/metabolism  Pregnancy  Biomarkers  DNA methylation  Epigenetics  Genomics  Methylome  Placenta Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASD) are increasingly prevalent neurodevelopmental disorders that are behaviorally diagnosed in early childhood. Most ASD cases likely arise from a complex mixture of genetic and environmental factors, an interface where the epigenetic marks of DNA methylation may be useful as risk biomarkers. The placenta is a potentially useful surrogate tissue characterized by a methylation pattern of partially methylated domains (PMDs) and highly methylated domains (HMDs) reflective of methylation patterns observed in the early embryo. METHODS: In this study, we investigated human term placentas from the MARBLES (Markers of Autism Risk in Babies: Learning Early Signs) prospective study by whole genome bisulfite sequencing. We also examined the utility of PMD/HMDs in detecting methylation differences consistent with ASD diagnosis at age three. RESULTS: We found that while human placental methylomes have highly reproducible PMD and HMD locations, there is a greater variation between individuals in methylation levels over PMDs than HMDs due to both sampling and individual variability. In a comparison of methylation differences in placental samples from 24 ASD and 23 typically developing (TD) children, a HMD containing a putative fetal brain enhancer near DLL1 was found to reach genome-wide significance and was validated for significantly higher methylation in ASD by pyrosequencing. CONCLUSIONS: These results suggest that the placenta could be an informative surrogate tissue for predictive ASD biomarkers in high-risk families. En ligne : http://dx.doi.org/10.1186/s13229-016-0114-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329