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Epigenetic and Autism

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https://www.readbyqxmd.com/read/29760409/histone-deacetylase-inhibitor-ms-275-restores-social-and-synaptic-function-in-a-shank3-deficient-mouse-model-of-autism
#1
Kaijie Ma, Luye Qin, Emmanuel Matas, Lara J Duffney, Aiyi Liu, Zhen Yan
Autism is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Genetic screening has identified synaptic, transcriptional, and chromatin genes disrupted in autistic patients. Haploinsufficiency of Shank3, which encodes a scaffold protein at glutamatergic synapses, is causally linked to autism. Using a Shank3-deficient mouse model that exhibits prominent autism-like phenotypes, we have found that histone acetylation in the prefrontal cortex (PFC) is abnormally low, which can be reversed by MS-275 (also known as Entinostat, SNDX-275), a class I histone deacetylase (HDAC) inhibitor that is selectively potent in PFC...
April 19, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#2
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
April 27, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29698767/regulation-of-neural-differentiation-synaptic-scaling-and-animal-behavior-by-mecp2-phophorylation
#3
Xiaofen Zhong, Hongda Li, Jason Kim, Qiang Chang
Highly expressed in the mammalian brain and widely distributed across the genome, MeCP2 is a key player in recognizing modified DNA and interpreting the epigenetic information encoded in different DNA methylation/hydroxymethylation patterns. Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome. Alterations in MECP2 levels have also been identified in patients with autism. To fully understand the significant role of MECP2 in regulating the development and function of the nervous system, it is important to study all aspects of MeCP2 function...
April 23, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29686828/integrated-genome-wide-alu-methylation-and-transcriptome-profiling-analyses-reveal-novel-epigenetic-regulatory-networks-associated-with-autism-spectrum-disorder
#4
Thanit Saeliw, Chayanin Tangsuwansri, Surangrat Thongkorn, Weerasak Chonchaiya, Kanya Suphapeetiporn, Apiwat Mutirangura, Tewin Tencomnao, Valerie W Hu, Tewarit Sarachana
Background: Alu elements are a group of repetitive elements that can influence gene expression through CpG residues and transcription factor binding. Altered gene expression and methylation profiles have been reported in various tissues and cell lines from individuals with autism spectrum disorder (ASD). However, the role of Alu elements in ASD remains unclear. We thus investigated whether Alu elements are associated with altered gene expression profiles in ASD. Methods: We obtained five blood-based gene expression profiles from the Gene Expression Omnibus database and human Alu-inserted gene lists from the TranspoGene database...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29685134/oral-sensitization-to-whey-proteins-induces-age-and-sex-dependent-behavioral-abnormality-and-neuroinflammatory-responses-in-a-mouse-model-of-food-allergy-a-potential-role-of-mast-cells
#5
Danielle L Germundson, Nicholas A Smith, Lane P Vendsel, Andrea V Kelsch, Colin K Combs, Kumi Nagamoto-Combs
BACKGROUND: Growing evidence has strengthened the association of food allergy with neuropsychiatric symptoms such as depression, anxiety, and autism. However, underlying mechanisms by which peripheral allergic responses lead to behavioral dysfunction are yet to be determined. Allergen-activated mast cells may serve as mediators by releasing histamine and other inflammatory factors that could adversely affect brain function. We hypothesized that eliciting food allergy in experimental animals would result in behavioral changes accompanied by mast cell accumulation in the brain...
April 23, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29587883/elevated-polygenic-burden-for-autism-is-associated-with-differential-dna-methylation-at-birth
#6
Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, Jakob Grove, Christine Søholm Hansen, Shan V Andrews, David Michael Hougaard, Michaeline Bresnahan, Ole Mors, Mads Vilhelm Hollegaard, Marie Bækvad-Hansen, Mady Hornig, Preben Bo Mortensen, Anders D Børglum, Thomas Werge, Marianne Giørtz Pedersen, Merete Nordentoft, Joseph Buxbaum, M Daniele Fallin, Jonas Bybjerg-Grauholm, Abraham Reichenberg, Jonathan Mill
BACKGROUND: Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both inherited and environmental risk factors, with epigenetic processes hypothesized as one mechanism by which both genetic and non-genetic variation influence gene regulation and pathogenesis. The aim of this study was to identify DNA methylation biomarkers of ASD detectable at birth...
March 28, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29574739/reimagining-the-environment-in-developmental-psychopathology-from-molecules-to-effective-interventions
#7
EDITORIAL
Pasco Fearon
The Journal of Child Psychology and Psychiatry's Annual Research Review (ARR) is a must-read special issue of the journal that presents a series of major reviews of key topics in the field. This year the ARR consists of eight reviews, each accompanied by a commentary from a leading expert in the field, on a diverse range of topics addressing, in complementary ways, the key role of the environment in child psychopathology and in leveraging change in the service of prevention and intervention. Topics include epigenetics, stress physiology, neonatal imaging, interparental conflict, bullying, autism treatments and suicide...
April 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29573218/understanding-environmental-contributions-to-autism-causal-concepts-and-the-state-of-science
#8
REVIEW
Irva Hertz-Picciotto, Rebecca J Schmidt, Paula Krakowiak
The complexity of neurodevelopment, the rapidity of early neurogenesis, and over 100 years of research identifying environmental influences on neurodevelopment serve as backdrop to understanding factors that influence risk and severity of autism spectrum disorder (ASD). This Keynote Lecture, delivered at the May 2016 annual meeting of the International Society for Autism Research, describes concepts of causation, outlines the trajectory of research on nongenetic factors beginning in the 1960s, and briefly reviews the current state of this science...
March 23, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29554304/increased-h3k9-methylation-and-impaired-expression-of-protocadherins-are-associated-with-the-cognitive-dysfunctions-of-the-kleefstra-syndrome
#9
Giovanni Iacono, Aline Dubos, Hamid Méziane, Marco Benevento, Ehsan Habibi, Amit Mandoli, Fabrice Riet, Mohammed Selloum, Robert Feil, Huiqing Zhou, Tjitske Kleefstra, Nael Nadif Kasri, Hans van Bokhoven, Yann Herault, Hendrik G Stunnenberg
Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity...
March 15, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29540737/g-protein-coupled-receptor-gpr17-regulates-oligodendrocyte-differentiation-in-response-to-lysolecithin-induced-demyelination
#10
Changqing Lu, Lihua Dong, Hui Zhou, Qianmei Li, Guojiao Huang, Shu Jun Bai, Linchuan Liao
Oligodendrocytes are the myelin-producing cells of the central nervous system (CNS). A variety of brain disorders from "classical" demyelinating diseases, such as multiple sclerosis, stroke, schizophrenia, depression, Down syndrome and autism, are shown myelination defects. Oligodendrocyte myelination is regulated by a complex interplay of intrinsic, epigenetic and extrinsic factors. Gpr17 (G protein-coupled receptor 17) is a G protein-coupled receptor, and has been identified to be a regulator for oligodendrocyte development...
March 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29531362/social-deficits-in-shank3-deficient-mouse-models-of-autism-are-rescued-by-histone-deacetylase-hdac-inhibition
#11
Luye Qin, Kaijie Ma, Zi-Jun Wang, Zihua Hu, Emmanuel Matas, Jing Wei, Zhen Yan
Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in these mice, and knockdown of HDAC2 in prefrontal cortex also rescued their social deficits. Nuclear localization of β-catenin, a Shank3-binding protein that regulates cell adhesion and transcription, was increased in Shank3-deficient mice, which induced HDAC2 upregulation and social deficits...
April 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29524155/reproductive-genetics-and-the-aging-male
#12
REVIEW
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29513516/prairie-voles-as-a-model-for-understanding-the-genetic-and-epigenetic-regulation-of-attachment-behaviors
#13
Julie M Sadino, Zoe R Donaldson
Over a lifetime, humans build relationships with family, friends, and partners that are critically important for our mental and physical health. Unlike commonly used laboratory mice and rats, Microtine rodents provide a unique model to study the neurobiology underlying pair bonding and the selective attachments that form between adults. Comparisons between monogamous prairie voles and the closely related but nonmonogamous meadow and montane voles have revealed that brain-region-specific neuropeptide receptor patterning modulates social behavior between and within species...
April 6, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29505762/genetic-and-epigenetic-regulatory-mechanisms-of-the-oxytocin-receptor-gene-oxtr-and-the-clinical-implications-for-social-behavior
#14
REVIEW
Sanne Tops, Ute Habel, Sina Radke
Oxytocin and the oxytocin receptor (OXTR) play an important role in a large variety of social behaviors. The oxytocinergic system interacts with environmental cues and is highly dependent on interindividual factors. Deficits in this system have been linked to mental disorders associated with social impairments, such as autism spectrum disorder (ASD). This review focuses on the modulation of social behavior by alterations in two domains of the oxytocinergic system. We discuss genetic and epigenetic regulatory mechanisms and alterations in these mechanisms that were found to have clinical implications for ASD...
March 12, 2018: Hormones and Behavior
https://www.readbyqxmd.com/read/29504047/sex-differences-in-autism-spectrum-disorder-a-review
#15
REVIEW
Sarah L Ferri, Ted Abel, Edward S Brodkin
PURPOSE OF REVIEW: Neurodevelopmental disorders disproportionately affect males. The mechanisms underlying male vulnerability or female protection are not known and remain understudied. Determining the processes involved is crucial to understanding the etiology and advancing treatment of neurodevelopmental disorders. Here, we review current findings and theories that contribute to male preponderance of neurodevelopmental disorders, with a focus on autism. RECENT FINDINGS: Recent work on the biological basis of the male preponderance of autism and other neurodevelopmental disorders includes discussion of a higher genetic burden in females and sex-specific gene mutations or epigenetic changes that differentially confer risk to males or protection to females...
March 5, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29484850/genetic-variations-on-setd5-underlying-autistic-conditions
#16
REVIEW
Isabella R Fernandes, Ana C P Cruz, Adriano Ferrasa, Dylan Phan, Roberto H Herai, Alysson R Muotri
The prevalence of autism spectrum disorders (ASD) and the number of identified ASD-related genes have increased in recent years. The SETD5 gene encodes a SET-containing-domain 5 protein, a likely reader enzyme. Genetic evidences suggest that SETD5 malfunction contributes to ASD phenotype, such as on intellectual disability (ID) and facial dysmorphism. In this review, we mapped the clinical phenotypes of individuals carrying mutations on the SETD5 gene that are associated with ASD and other chromatinopathies (mutation in epigenetic modifiers that leads to the development of neurodevelopmental disorders such as ASD)...
May 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29477220/thiamin
#17
REVIEW
Derrick Lonsdale
Starting with a brief history of beriberi and the discovery that thiamin deficiency is its cause, the symptoms and signs are reviewed. None are pathognomonic. The disease has a low mortality and a long morbidity. The appearance of the patient can be deceptive, often being mistaken for psychosomatic disease in the early stages. The chemistry of thiamin and the laboratory methodology for depicting its deficiency are outlined. The diseases associated with thiamin deficiency, apart from malnutrition, include a number of genetically determined conditions where mutations, either in the cofactor relationship or a transporter, provide the etiology...
2018: Advances in Food and Nutrition Research
https://www.readbyqxmd.com/read/29460795/evidence-the-u-s-autism-epidemic-initiated-by-acetaminophen-tylenol-is-aggravated-by-oral-antibiotic-amoxicillin-clavulanate-augmentin-and-now-exponentially-by-herbicide-glyphosate-roundup
#18
Peter Good
Because certain hereditary diseases show autistic behavior, and autism often runs in families, researchers seek genes underlying the pathophysiology of autism, thus core behaviors. Other researchers argue environmental factors are decisive, citing compelling evidence of an autism epidemic in the United States beginning about 1980. Recognition that environmental factors influence gene expression led to synthesis of these views - an 'epigenetic epidemic' provoked by pervasive environmental agents altering expression of vulnerable genes, inducing characteristic autistic biochemistries in many mothers and infants...
February 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29391184/repint-of-reframing-autism-as-a-behavioral-syndrome-and-not-a-specific-mental-disorder-implications-of-genetic-and-phenotypic-heterogeneity
#19
REVIEW
S Tordjman, D Cohen, G M Anderson, M Botbol, R Canitano, N Coulon, P L Roubertoux
Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first time discussed extensively with regard to possible common underlying mechanisms leading to a similar cognitive-behavioral phenotype of autism. The possible role of interactions between genetic and environmental factors, including epigenetic mechanisms, is in particular examined. Finally, the pertinence of distinguishing non-syndromic autism (isolated autism) from syndromic autism (autism associated with genetic disorders) will be reconsidered...
June 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29388081/loss-of-angelman-syndrome-protein-e6ap-disrupts-a-novel-antagonistic-estrogen-retinoic-acid-transcriptional-crosstalk-in-neurons
#20
Jimmy El Hokayem, Edwin Weeber, Zafar Nawaz
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. AS affects an estimated 1 in 12,000 to 20,000 individuals. Characteristic features of AS includes developmental delay or intellectual disability, severe speech impairment, seizures, small head size (microcephaly), and problems with movement and balance (ataxia). AS individuals usually have microdeletion of the maternal copy of 15q11.2-15q13 region of chromosome 15. The E6-associated protein (E6AP, an E3 ubiquitin protein ligase enzyme) is encoded by the gene UBE3A, which is located in this region, and it has been shown that deregulation of E6AP gives rise to AS and neuropathology of autism spectrum disorders (ASDs) (e...
January 31, 2018: Molecular Neurobiology
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