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https://www.readbyqxmd.com/read/28915148/adult-fmr1-knockout-mice-present-with-deficiencies-in-hippocampal-interleukin-6-and-tumor-necrosis-factor-%C3%AE-expression
#1
Samantha L Hodges, Suzanne O Nolan, Joseph H Taube, Joaquin N Lugo
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a single genetic mutation in the FMR1 gene. Mutations in the FMR1 gene are the largest monogenic cause of autism spectrum disorder (ASD), and thus both disorders share many of the same cognitive and behavioral impairments. There is increasing evidence suggesting that dysregulated immune responses play a role in the pathophysiology of ASD; however, the association between FXS and altered immunity requires further investigation. This study examined whether Fmr1 knockout (KO) and wild-type mice on a FVB/NJ background strain had altered cytokine expression at baseline levels in the hippocampus...
September 14, 2017: Neuroreport
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#2
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28912273/neuroligin-4-regulates-synaptic-growth-via-the-bone-morphogenetic-protein-bmp-signaling-pathway-at-the-drosophila-neuromuscular-junction
#3
Xinwang Zhang, Menglong Rui, Guangmin Gan, Cong Huang, Jukang Yi, Huihui Lv, Wei Xie
The neuroligin (Nlg) family of neural cell adhesion molecules is thought to be required for synapse formation and development, and has been linked to the development of autism spectrum disorders in humans. In Drosophila melanogaster, mutations in the neuroligin 1-3 genes have been reported to induce synapse developmental defects at neuromuscular junctions (NMJs), but the role of neuroligin 4 (dnlg4) in synapse development has not been determined. Here, we report that the Drosophila neuroligin 4 (DNlg4) is different from DNlg1-3 that it presynaptically regulates NMJ synapse development...
September 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28906292/shank3-regulates-intestinal-barrier-function-through-modulating-zo-1-expression-through-the-pkc%C3%AE%C2%B5-dependent-pathway
#4
Shu-Chen Wei, Hsin-Fang Yang-Yen, Po-Nien Tsao, Meng-Tzu Weng, Chien-Chih Tung, Linda C H Yu, Liang-Chuan Lai, Jen-Hao Hsiao, Eric Y Chuang, Chia-Tung Shun, Yen-Hsuan Ni, Ramnik J Xavier, Daniel K Podolsky, Jeffery J Y Yen, Jau-Min Wong
BACKGROUND: The integrity of the gut barrier in patients with inflammatory bowel disease is known to be impaired but the exact mechanisms remain mostly unknown. SHANK3 mutations are associated with autism, and patients with autism are known to have higher proportions of inflammatory bowel disease. Here, we explore the role of SHANK3 in inflammatory bowel disease, both in vivo and in vitro. METHODS: Dextran sulfate sodium colitis was induced in SHANK3 knockout mice...
October 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28894950/autism-spectrum-disorder-an-early-and-frequent-feature-in-cerebrotendinous-xanthomatosis
#5
Bianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, Francjan J van Spronsen, Peter M van Hasselt, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD...
September 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28892071/a-novel-rare-variant-r292h-in-rtn4r-affects-growth-cone-formation-and-possibly-contributes-to-schizophrenia-susceptibility
#6
H Kimura, Y Fujita, T Kawabata, K Ishizuka, C Wang, Y Iwayama, Y Okahisa, I Kushima, M Morikawa, Y Uno, T Okada, M Ikeda, T Inada, A Branko, D Mori, T Yoshikawa, N Iwata, H Nakamura, T Yamashita, N Ozaki
Reticulon 4 receptor (RTN4R) plays an essential role in regulating axonal regeneration and plasticity in the central nervous system through the activation of rho kinase, and is located within chromosome 22q11.2, a region that is known to be a hotspot for schizophrenia (SCZ) and autism spectrum disorder (ASD). Recently, rare variants such as copy-number variants and single-nucleotide variants have been a focus of research because of their large effect size associated with increased susceptibility to SCZ and ASD and the possibility of elucidating the pathophysiology of mental disorder through functional analysis of the discovered rare variants...
August 22, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28887608/erratum-to-interactive-effects-of-prenatal-antidepressant-exposure-and-likely-gene-disrupting-mutations-on-the-severity-of-autism-spectrum-disorder
#7
Sean Ackerman, Sarah Schoenbrun, Caitlin Hudac, Raphael Bernier
No abstract text is available yet for this article.
September 8, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28884888/foxp1-haploinsufficiency-phenotypes-beyond-behavior-and-intellectual-disability
#8
Angela Myers, Christèle du Souich, Connie L Yang, Lior Borovik, Jill Mwenifumbo, Rosemarie Rupps, Causes Study, Anna Lehman, Cornelius F Boerkoel
The forkhead box (FOX) transcription factors have roles in development, carcinogenesis, metabolism, and immunity. In humans FOXP1 mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, facial dysmorphisms, and congenital anomalies of the kidney and urinary tract. In mice, Foxp1 plays critical roles in development of the spinal motor neurons, lymphocytes, cardiomyocytes, foregut, and skeleton. We hypothesized therefore that mutations of FOXP1 affect additional tissues in some humans...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884032/neurological-manifestations-of-x-linked-ichthyosis-case-report-and-review-of-the-literature
#9
William S Baek, Umut Aypar
A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28870164/attention-and-motor-deficits-index-non-specific-background-liabilities-that-predict-autism-recurrence-in-siblings
#10
Sabine E Mous, Allan Jiang, Arpana Agrawal, John N Constantino
BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed...
September 5, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28867767/arid1b-haploinsufficiency-causes-abnormal-brain-gene-expression-and-autism-related-behaviors-in-mice
#11
Mihiro Shibutani, Takuro Horii, Hirotaka Shoji, Sumiyo Morita, Mika Kimura, Naomi Terawaki, Tsuyoshi Miyakawa, Izuho Hatada
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with core symptoms that include poor social communication, restricted interests, and repetitive behaviors. Several ASD mouse models exhibit impaired social interaction, anxiety-like behavior, and elevated perseveration. Large-scale whole exome sequencing studies identified many genes putatively associated with ASD. Like chromodomain helicase DNA binding protein 8 (CHD8), the most frequently mutated gene in individuals with ASD, the candidate gene AT-rich interaction domain 1B (ARID1B) encodes a chromatin remodeling factor...
August 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28867142/exonic-mosaic-mutations-contribute-risk-for-autism-spectrum-disorder
#12
Deidre R Krupp, Rebecca A Barnard, Yannis Duffourd, Sara A Evans, Ryan M Mulqueen, Raphael Bernier, Jean-Baptiste Rivière, Eric Fombonne, Brian J O'Roak
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28866801/recent-advances-in-assays-for-the-fragile-x-related-disorders
#13
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...
September 2, 2017: Human Genetics
https://www.readbyqxmd.com/read/28861935/children-with-autism-spectrum-disorder-who-improve-with-fever-insights-from-the-simons-simplex-collection
#14
Rebecca Grzadzinski, Catherine Lord, Stephan J Sanders, Donna Werling, Vanessa H Bal
Literature indicates that some children with ASD may show behavioral improvements during fever; however, little is known about the behavioral profiles of these children. This study aims to (a) investigate the subset of children who show parent-reported behavioral improvements associated with fever and (b) compare the demographic, behavioral, and genetic characteristics of this subset of children to children whose parents report no change during fever. Parents of 2,152 children from the Simons Simplex Collection provided information about whether and in which areas their child improved during fever...
August 31, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28859574/cognitive-dysfunctions-in-intellectual-disabilities-the-contributions-of-the-ras-mapk-and-pi3k-akt-mtor-pathways
#15
Sarah C Borrie, Hilde Brems, Eric Legius, Claudia Bagni
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as cancer regulatory pathways but have now been demonstrated to be critical for synaptic plasticity and behavior. Neurodevelopmental disorders arising from mutations in these pathways exhibit related neurological phenotypes, including cognitive dysfunction, autism, and intellectual disability. The downstream targets of these pathways include regulation of transcription and protein synthesis. Other disorders that affect protein translation include fragile X syndrome (an important cause of syndromal autism), and other translational regulators are now also linked to autism...
August 31, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28856816/analysis-and-functional-characterization-of-sequence-variations-in-ligand-binding-domain-of-thyroid-hormone-receptors-in-autism-spectrum-disorder-asd-patients
#16
Mahesh Kumar Kalikiri, Madhu Poornima Mamidala, Ananth N Rao, Vidya Rajesh
Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRβ. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal...
August 30, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28856484/gene-disrupting-mutations-associated-with-regression-in-autism-spectrum-disorder
#17
Robin P Goin-Kochel, Sandy Trinh, Shelley Barber, Raphael Bernier
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes...
August 30, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28845518/neurodevelopmental-disorders-in-children-with-neurofibromatosis-type-1
#18
REVIEW
Alecia C Vogel, David H Gutmann, Stephanie M Morris
Over the past several decades, neurofibromatosis type 1 (NF1) has become increasingly recognized as a neurodevelopmental disorder conferring increased risk for several important neurodevelopmental problems. In this review, we summarize the specific neurodevelopmental problems encountered in the context of NF1. These include impairments in general cognitive function, deficits in specific cognitive domains such as executive function and visuospatial processing and risk for specific learning disorders, impairments in attention and social skills and the overlap with attention-deficit-hyperactivity disorder and autism spectrum disorder, and the risk of developing other psychiatric conditions including anxiety and depression...
August 27, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28844789/protocadherin-10-alters-%C3%AE-oscillations-amino-acid-levels-and-their-coupling-baclofen-partially-restores-these-oscillatory-deficits
#19
Russell G Port, Christopher Gajewski, Elizabeth Krizman, Holly C Dow, Shinji Hirano, Edward S Brodkin, Gregory C Carlson, Michael B Robinson, Timothy P L Roberts, Steven J Siegel
Approximately one in 45 children have been diagnosed with Autism Spectrum Disorder (ASD), which is characterized by social/communication impairments. Recent studies have linked a subset of familial ASD to mutations in the Protocadherin 10 (Pcdh10) gene. Additionally, Pcdh10's expression pattern, as well as its known role within protein networks, implicates the gene in ASD. Subsequently, the neurobiology of mice heterozygous for Pcdh10 (Pcdh10(+/-)) has been investigated as a proxy for ASD. Male Pcdh10(+/-) mice have demonstrated sex-specific deficits in social behavior, recapitulating the gender bias observed in ASD...
August 24, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28842941/characterization-of-early-communicative-behavior-in-mouse-models-of-neurofibromatosis-type-1
#20
Susan E Maloney, Krystal C Chandler, Corina Anastasaki, Michael A Rieger, David H Gutmann, Joseph D Dougherty
Neurofibromatosis type 1 (NF1) is a monogenic neurodevelopmental disease caused by germline loss-of-function mutations in the NF1 tumor suppressor gene. Cognitive impairments are observed in approximately 80% of children with this disease, with 45-60% exhibiting autism spectrum disorder (ASD) symptomatology. In light of the high comorbidity rate between ASD and NF1, we assessed early communicative behavior by maternal-separation induced pup ultrasonic vocalizations (USV) and developmental milestones in two distinct Nf1 genetically engineered models, one modeling clinical germline heterozygous loss of Nf1 function (Nf1(+/-) mice), and a second with somatic biallelic Nf1 inactivation in neuroglial progenitor cells (Nf1(GFAP) CKO mice)...
August 26, 2017: Autism Research: Official Journal of the International Society for Autism Research
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