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Epigenetic and Autism

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https://www.readbyqxmd.com/read/29150292/neonatal-and-regressive-forms-of-autism-diseases-with-similar-symptoms-but-a-different-etiology
#1
William E Barbeau
Autistic Spectrum Disorder (ASD) can be a debilitating, life-long neurocognitive disease. ASD is caused by genetic and epigenetic factors and largely unknown and poorly understood environmental triggers. Signs and symptoms of ASD often appear in the first year of life while the disease strikes other infants who had previously been developing normally at around 2years of age. Ozonoff and her colleagues recently suggested that there are three different pathways or trajectories for the development of ASD in infants 6-24months of age...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29134693/microglia-from-offspring-of-dams-with-allergic-asthma-exhibit-epigenomic-alterations-in-genes-dysregulated-in-autism
#2
Annie Vogel Ciernia, Milo Careaga, Janine M LaSalle, Paul Ashwood
Dysregulation in immune responses during pregnancy increases the risk of a having a child with an autism spectrum disorder (ASD). Asthma is one of the most common chronic diseases among pregnant women, and symptoms often worsen during pregnancy. We recently developed a mouse model of maternal allergic asthma (MAA) that induces changes in sociability, repetitive, and perseverative behaviors in the offspring. Since epigenetic changes help a static genome adapt to the maternal environment, activation of the immune system may epigenetically alter fetal microglia, the brain's resident immune cells...
November 14, 2017: Glia
https://www.readbyqxmd.com/read/29073621/sexually-dimorphic-epigenetic-regulation-of-brain-derived-neurotrophic-factor-in-fetal-brain-in-the-valproic-acid-model-of-autism-spectrum-disorder
#3
Melissa A Konopko, Allison L Densmore, Bruce K Krueger
Prenatal exposure to the antiepileptic, mood-stabilizing drug, valproic acid (VPA), increases the incidence of autism spectrum disorders (ASDs); in utero administration of VPA to pregnant rodents induces ASD-like behaviors such as repetitive, stereotyped activity, and decreased socialization. In both cases, males are more affected than females. We previously reported that VPA, administered to pregnant mice at gestational day 12.5, rapidly induces a transient, 6-fold increase in BDNF (brain-derived neurotrophic factor) protein and mRNA in the fetal brain...
October 27, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/29066808/cross-tissue-integration-of-genetic-and-epigenetic-data-offers-insight-into-autism-spectrum-disorder
#4
Shan V Andrews, Shannon E Ellis, Kelly M Bakulski, Brooke Sheppard, Lisa A Croen, Irva Hertz-Picciotto, Craig J Newschaffer, Andrew P Feinberg, Dan E Arking, Christine Ladd-Acosta, M Daniele Fallin
Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3...
October 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/29040751/epidenovo-a-platform-for-linking-regulatory-de-novo-mutations-to-developmental-epigenetics-and-diseases
#5
Fengbiao Mao, Qi Liu, Xiaolu Zhao, Haonan Yang, Sen Guo, Luoyuan Xiao, Xianfeng Li, Huajing Teng, Zhongsheng Sun, Yali Dou
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most developmental diseases occur in the early stages of development or during childhood, it is crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29028941/dysregulation-of-cortical-neuron-dna-methylation-profile-in-autism-spectrum-disorder
#6
Stefano Nardone, Dev Sharan Sams, Antonino Zito, Eli Reuveni, Evan Elliott
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric syndrome whose etiology includes genetic and environmental components. Since epigenetic marks are sensitive to environmental insult, they may be involved in the development of ASD. Initial brain studies have suggested a dysregulation of epigenetic marks in ASD. However, due to cellular heterogeneity in the brain, these studies have not determined if there is a true change in the neuronal epigenetic signature. Here, we report a genome-wide methylation study on fluorescence-activated cell sorting-sorted neuronal nuclei from the frontal cortex of 16 male ASD and 15 male control subjects...
December 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29027913/neural-hyperexcitability-in-autism-spectrum-disorders
#7
REVIEW
Yukari Takarae, John Sweeney
Despite the progress that has been made in research on autism spectrum disorders (ASD), the understanding of the biological basis of ASD to identify targets for novel, effective treatment remains limited. One of the leading biological theories of autism is a model of cortical hyperexcitability. While numerous genetic and epigenetic studies support this model, how this particular biological alteration relates to known phenotypes in ASD is not well established. Using examples of sensory processing alterations, this review illustrates how cortical excitability may affect neural processes to result eventually in some core clinical phenotypes in ASD...
October 13, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28993790/network-diffusion-based-prioritization-of-autism-risk-genes-identifies-significantly-connected-gene-modules
#8
Ettore Mosca, Matteo Bersanelli, Matteo Gnocchi, Marco Moscatelli, Gastone Castellani, Luciano Milanesi, Alessandra Mezzelani
Autism spectrum disorder (ASD) is marked by a strong genetic heterogeneity, which is underlined by the low overlap between ASD risk gene lists proposed in different studies. In this context, molecular networks can be used to analyze the results of several genome-wide studies in order to underline those network regions harboring genetic variations associated with ASD, the so-called "disease modules." In this work, we used a recent network diffusion-based approach to jointly analyze multiple ASD risk gene lists...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28941239/genetics-and-epigenetics-of-autism-a-review
#9
REVIEW
Mary M Y Waye, Ho Yu Cheng
Autism is a developmental disorder that starts before age 3 years, and children with autism have impairment in both social interaction and communication, and have restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. There is a strong heritable component of autism and autism spectrum disorder (ASD) as studies have shown that parents who have a child with ASD have a 2-18% chance of having a second child with ASD. The prevalence of autism and ASD have been increasing during the last 3 decades and much research has been carried out to understand the etiology, so as to develop novel preventive and treatment strategies...
September 23, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28932904/a-computational-method-using-the-random-walk-with-restart-algorithm-for-identifying-novel-epigenetic-factors
#10
JiaRui Li, Lei Chen, ShaoPeng Wang, YuHang Zhang, XiangYin Kong, Tao Huang, Yu-Dong Cai
Epigenetic regulation has long been recognized as a significant factor in various biological processes, such as development, transcriptional regulation, spermatogenesis, and chromosome stabilization. Epigenetic alterations lead to many human diseases, including cancer, depression, autism, and immune system defects. Although efforts have been made to identify epigenetic regulators, it remains a challenge to systematically uncover all the components of the epigenetic regulation in the genome level using experimental approaches...
September 20, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#11
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28901249/proteins-commonly-linked-to-autism-spectrum-disorder-and-alzheimer-s-disease
#12
Athanasios Alexiou, Georgia Soursou, Nagendra Sastry Yarla, Ghulam Md Ashraf
Several years after the first publication of Barker's Hypothesis the identification of common patterns and pathways between genetic and epigenetic risk factors in neurodegenerative disorders is still an open problem. For the cases of Alzheimer's disease and Autism and by taking into consideration the increasing number of diagnosed cases globally, scientists focused on commonly expressed and related proteins like Amyloid beta and the mechanisms of their underlying dysfunctionalities. In this review paper, an attempt to specify significant correlations between proteins linked to Autism Spectrum Disorders and Alzheimer's Disease is presented...
September 11, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/28890420/perinatal-inflammation-and-adult-psychopathology-from-preclinical-models-to-humans
#13
REVIEW
Amaicha Mara Depino
Perinatal environment plays a crucial role in brain development and determines its function through life. Epidemiological studies and clinical reports link perinatal exposure to infection and/or immune activation to various psychiatric disorders. In addition, accumulating evidence from animal models shows that perinatal inflammation can affect various behaviors relevant to psychiatric disorders such as schizophrenia, autism, anxiety and depression. Remarkably, the effects on behavior and brain function do not always depend on the type of inflammatory stimulus or the perinatal age targeted, so diverse inflammatory events can have similar consequences on the brain...
September 7, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28887651/a-cell-culture-model-for-investigation-of-synapse-influenceability-epigenetics-expression-and-function-of-gene-targets-important-for-synapse-formation-and-preservation-in-sh-sy5y-neuroblastoma-cells-differentiated-by-retinoic-acid
#14
Kirsten Jahn, C Wieltsch, N Blumer, M Mehlich, H Pathak, A Q Khan, H Hildebrandt, H Frieling
SH-SY5Y neuroblastoma cells are frequently used for different neuronal cell culture models. As there is no "gold-standard", miscellaneous protocols exist to differentiate these cells into a neuronal cell type. Here, the aim was to find a differentiation condition making cells suitable for investigation of influenceability of synapses by environmental conditions in pharmacologic experiments. For this purpose, effects on synapse molecules should be somehow rateable and cells should be usable for functional analysis like calcium imaging...
November 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#15
REVIEW
Bruce E Hayward, Daman Kumari, Karen Usdin
The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP...
October 2017: Human Genetics
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#16
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28864976/overview-of-human-oxytocin-research
#17
Keith M Kendrick, Adam J Guastella, Benjamin Becker
Social dysfunction is a core symptom of many psychiatric disorders and current medications have little or no remedial effects on this. Following on from extensive studies on animal models demonstrating that the neuropeptide oxytocin plays an important role in social recognition and bonding, human-based research has explored its therapeutic potential for social dysfunction in psychiatric disorders. Here we outline the historical background of this human-based research and some of the current methodological challenges it is facing...
September 2, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28859332/biology-of-microglia-in-the-developing-brain
#18
Charanjit Kaur, Gurugirijha Rathnasamy, Eng-Ang Ling
Microglia exist in different morphological forms in the developing brain. They show a small cell body with scanty cytoplasm with many branching processes in the grey matter of the developing brain. However, in the white matter such as the corpus callosum where the unmyelinated axons are loosely organized, they appear in an amoeboid form having a round cell body endowed with copious cytoplasm rich in organelles. The amoeboid cells eventually transform into ramified microglia in the second postnatal week when the tissue becomes more compact with the onset of myelination...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28812273/a-precision-medicine-approach-to-oxytocin%C3%A2-trials
#19
Elissar Andari, Rene Hurlemann, Larry J Young
In this chapter, we introduce a new area of social pharmacology that encompasses the study of the role of neuromodulators in modulating a wide range of social behaviors and brain function, with the interplay of genetic and epigenetic factors. There are increasing evidences for the role of the neuropeptide oxytocin in modulating a wide range of social behaviors, in reducing anxiety, and in impacting the social brain network. Oxytocin also promotes social functions in patients with neuropsychiatric disorders, such as autism and reduces anxiety and fear in anxiety disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28781890/self-reported-pregnancy-exposures-and-placental-dna-methylation-in-the-marbles-prospective-autism-sibling-study
#20
Rebecca J Schmidt, Diane I Schroeder, Florence K Crary-Dooley, Jacqueline M Barkoski, Daniel J Tancredi, Cheryl K Walker, Sally Ozonoff, Irva Hertz-Picciotto, Janine M LaSalle
Human placenta is a fetal-derived tissue that offers a unique sample of epigenetic and environmental exposures present in utero. In the MARBLES prospective pregnancy study of high-risk younger siblings of children with autism spectrum disorder (ASD), pregnancy and environmental factors collected by maternal interviews were examined as predictors of placental DNA methylation, including partially methylated domains (PMDs), an embryonic feature of the placental methylome. DNA methylation data from MethylC-seq analysis of 47 placentas of children clinically diagnosed at 3 years with ASD or typical development using standardized assessments were examined in relation to: child's gestational age, birth-weight, and diagnosis; maternal pre-pregnancy body mass index, smoking, education, parity, height, prenatal vitamin and folate intake; home ownership; pesticides professionally applied to lawns or gardens or inside homes, pet flea/tick pouches, collars, or soaps/shampoos used in the 3 months prior to or during pregnancy...
December 2016: Environmental Epigenetics
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