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Autism gene drug

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https://www.readbyqxmd.com/read/28638591/replicable-in-vivo-physiological-and-behavioral-phenotypes-of-the-shank3b-null-mutant-mouse-model-of-autism
#1
Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28635106/long-noncoding-rna-and-its-contribution-to-autism-spectrum-disorders
#2
REVIEW
Jie Tang, Yizhen Yu, Wei Yang
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome...
June 20, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28497380/from-gene-to-behavior-l-type-calcium-channel-mechanisms-underlying-neuropsychiatric-symptoms
#3
REVIEW
Zeeba D Kabir, Arlene Martínez-Rivera, Anjali M Rajadhyaksha
The L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and plasticity. In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder...
May 11, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28472621/the-valproic-acid-induced-rodent-model-of-autism
#4
REVIEW
Chiara Nicolini, Margaret Fahnestock
Autism is a lifelong neurodevelopmental disorder characterized by impairments in social communication and interaction and by repetitive patterns of behavior, interests and activities. While autism has a strong genetic component, environmental factors including toxins, pesticides, infection and drugs are known to confer autism susceptibility, likely by inducing epigenetic changes. In particular, exposure to valproic acid (VPA) during pregnancy has been demonstrated to increase the risk of autism in children...
May 2, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28470827/pharmacogenomics-and-efficacy-of-risperidone-long-term-treatment-in-thai-autistic-children-and-adolescents
#5
Nopphadol Nuntamool, Nattawat Ngamsamut, Natchaya Vanwong, Apichaya Puangpetch, Monpat Chamnanphon, Yaowaluck Hongkaew, Penkhae Limsila, Chuthamanee Suthisisang, Bob Wilffert, Chonlaphat Sukasem
The purpose of this study was to evaluate the association of pharmacogenomic factors and clinical outcomes in autistic children and adolescents who were treated with risperidone for long periods. Eighty-two autistic subjects diagnosed with DSM-IV and who were treated with risperidone for more than 1 year were recruited. Pharmacogenomics and clinical outcome (CGI-I, aggressive, over-activity and repetitive score) were evaluated. Almost all patients showed stable symptoms on aggressive behaviour (89.02%), over-activity (71...
May 4, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28465421/hyperactive-locomotion-in-a-drosophila-model-is-a-functional-readout-for-the-synaptic-abnormalities-underlying-fragile-x-syndrome
#6
Risa Kashima, Patrick L Redmond, Prajakta Ghatpande, Sougata Roy, Thomas B Kornberg, Thomas Hanke, Stefan Knapp, Giorgio Lagna, Akiko Hata
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the translation of target mRNAs...
May 2, 2017: Science Signaling
https://www.readbyqxmd.com/read/28428202/precision-physiology-and-rescue-of-brain-ion-channel-disorders
#7
REVIEW
Jeffrey Noebels
Ion channel genes, originally implicated in inherited excitability disorders of muscle and heart, have captured a major role in the molecular diagnosis of central nervous system disease. Their arrival is heralded by neurologists confounded by a broad phenotypic spectrum of early-onset epilepsy, autism, and cognitive impairment with few effective treatments. As detection of rare structural variants in channel subunit proteins becomes routine, it is apparent that primary sequence alone cannot reliably predict clinical severity or pinpoint a therapeutic solution...
May 1, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28414301/striatopallidal-dysfunction-underlies-repetitive-behavior-in-shank3-deficient-model-of-autism
#8
Wenting Wang, Chenchen Li, Qian Chen, Marie-Sophie van der Goes, James Hawrot, Annie Y Yao, Xian Gao, Congyi Lu, Ying Zang, Qiangge Zhang, Katherine Lyman, Dongqing Wang, Baolin Guo, Shengxi Wu, Charles R Gerfen, Zhanyan Fu, Guoping Feng
The postsynaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (SHANK3) is critical for the development and function of glutamatergic synapses. Disruption of the SHANK3-encoding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming and social interaction deficits. Although basal ganglia dysfunction has been proposed to underlie repetitive behaviors, few studies have provided direct evidence to support this notion and the exact cellular mechanisms remain largely unknown...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#9
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28373024/a-rapid-chemical-genetic-screen-utilizing-impaired-movement-phenotypes-in-c-elegans-input-into-genetics-of-neurodevelopmental-disorders
#10
Kathrin Schmeisser, Yasmin Fardghassemi, J Alex Parker
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context...
April 1, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28361099/a-de-novo-splice-site-mutation-in-ehmt1-resulting-in-kleefstra-syndrome-with-pharmacogenomics-screening-and-behavior-therapy-for-regressive-behaviors
#11
Amit Kumar Mitra, Jessica Dodge, Jody Van Ness, Israel Sokeye, Brian Van Ness
BACKGROUND: Kleefstra syndrome (KS) is a rare autosomal dominant developmental disability, caused by microdeletions or intragenic mutations within the epigenetic regulator gene EHMT1 (euchromatic histone lysine N-methyltransferase 1). In addition to common features of autism, young adult regressive behaviors have been reported. However, the genetic downstream effects of the reported deletions or mutations on KS phenotype have not yet been completely explored. While genetic backgrounds affecting drug metabolism can have a profound effect on therapeutic interventions, pharmacogenomic variations are seldom considered in directing psychotropic therapies...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28335457/the-epigenetic-link-between-prenatal-adverse-environments-and-neurodevelopmental-disorders
#12
REVIEW
Marija Kundakovic, Ivana Jaric
Prenatal adverse environments, such as maternal stress, toxicological exposures, and viral infections, can disrupt normal brain development and contribute to neurodevelopmental disorders, including schizophrenia, depression, and autism. Increasing evidence shows that these short- and long-term effects of prenatal exposures on brain structure and function are mediated by epigenetic mechanisms. Animal studies demonstrate that prenatal exposure to stress, toxins, viral mimetics, and drugs induces lasting epigenetic changes in the brain, including genes encoding glucocorticoid receptor (Nr3c1) and brain-derived neurotrophic factor (Bdnf)...
March 18, 2017: Genes
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#13
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28211606/nrf2-a-novel-therapeutic-target-in-fragile-x-syndrome-is-modulated-by-nnz2566
#14
Robert M J Deacon, Michael J Hurley, Camila Martínez Rebolledo, Mike Snape, Francisco J Altimiras, Leandro Farías, Michael Pino, Rodolfo Biekofsky, Larry Glass, Patricia Cogram
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes...
February 17, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28192273/gabaa-receptor-subtypes-in-the-mouse-brain-regional-mapping-and-diazepam-receptor-occupancy-by-in-vivo-18-f-flumazenil-pet
#15
Adrienne Müller Herde, Dietmar Benke, William T Ralvenius, Linjing Mu, Roger Schibli, Hanns Ulrich Zeilhofer, Stefanie D Krämer
Classical benzodiazepines, which are widely used as sedatives, anxiolytics and anticonvulsants, exert their therapeutic effects through interactions with heteropentameric GABAA receptors composed of two α, two β and one γ2 subunit. Their high affinity binding site is located at the interface between the γ2 and the adjacent α subunit. The α-subunit gene family consists of six members and receptors can be homomeric or mixed with respect to the α-subunits. Previous work has suggested that benzodiazepine binding site ligands with selectivity for individual GABAA receptor subtypes, as defined by the benzodiazepine-binding α subunit, may have fewer side effects and may even be effective in diseases, such as schizophrenia, autism or chronic pain, that do not respond well to classical benzodiazepines...
February 10, 2017: NeuroImage
https://www.readbyqxmd.com/read/28192196/quantification-of-various-app-mrna-isoforms-and-epistasis-in-lesch-nyhan-disease
#16
Khue Vu Nguyen, William L Nyhan
The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNA isoforms (APP-mRNA isoforms) in biological samples, especially for identifying the most abundant one that may decisive for the normal status or disease risk. Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes...
March 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28018217/pharmacogenomic-study-reveals-new-variants-of-drug-metabolizing-enzyme-and-transporter-genes-associated-with-steady-state-plasma-concentrations-of-risperidone-and-9-hydroxyrisperidone-in-thai-autism-spectrum-disorder-patients
#17
Sadeep Medhasi, Darawan Pinthong, Ekawat Pasomsub, Natchaya Vanwong, Nattawat Ngamsamut, Apichaya Puangpetch, Monpat Chamnanphon, Yaowaluck Hongkaew, Jirawat Pratoomwun, Penkhae Limsila, Chonlaphat Sukasem
The present study sought to investigate the genetic variants in drug metabolizing enzyme and transporter (DMET) genes associated with steady-state plasma concentrations of risperidone among Thai autism spectrum disorder (ASD) patients. ASD patients taking risperidone for at least 1 month were enrolled for this pharmacogenomic study. Genotyping profile was obtained using Affymetrix DMET Plus array interrogating 1931 variants in 231 genes. Steady-state plasma risperidone and 9-hydroxyrisperidone were measured using liquid chromatography/tandem mass spectrometry assay...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27919711/epigenetic-dysfunctional-diseases-and-therapy-for-infection-and-inflammation
#18
REVIEW
Saheli Samanta, Sheeja Rajasingh, Thuy Cao, Buddhadeb Dawn, Johnson Rajasingh
Even though the discovery of the term 'epigenetics' was in the 1940s, it has recently become one of the most promising and expanding fields to unravel the gene expression pattern in several diseases. The most well studied example is cancer, but other diseases like metabolic disorders, autism, or inflammation-associated diseases such as lung injury, autoimmune disease, asthma, and type-2 diabetes display aberrant gene expression and epigenetic regulation during their occurrence. The change in the epigenetic pattern of a gene may also alter gene function because of a change in the DNA status...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27870441/sexual-divergence-in-activity-dependent-neuroprotective-protein-impacting-autism-schizophrenia-and-alzheimer-s-disease
#19
REVIEW
Illana Gozes
Discovered in our laboratory, activity-dependent neuroprotective protein (ADNP) interacts with key regulatory proteins, including the chromatin remodeling complex SWI/SNF, proteins associated with RNA splicing, RNA translation, microtubule dynamics, and autophagy. ADNP regulates > 400 genes during mouse embryonic development and is essential for neural tube closure. ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27815839/disruption-of-ninjurin1-leads-to-repetitive-and-anxiety-like-behaviors-in-mice
#20
Hoang Le, Bum Ju Ahn, Hye Shin Lee, Anna Shin, Sujin Chae, Sung Yi Lee, Min Wook Shin, Eun-Ji Lee, Jong-Ho Cha, Taekwon Son, Ji Hae Seo, Hee-Jun Wee, Hyo-Jong Lee, Yongwoo Jang, Eng H Lo, Sejin Jeon, Goo Taeg Oh, Daesoo Kim, Kyu-Won Kim
Over the last few decades, molecular neurobiology has uncovered many genes whose deficiency in mice results in behavioral traits associated with human neuropsychiatric disorders such as autism, obsessive-compulsive disorder (OCD), and schizophrenia. However, the etiology of these common diseases remains enigmatic with the potential involvement of a battery of genes. Here, we report abnormal behavioral phenotypes of mice deficient in a cell adhesion molecule Ninjurin 1 (Ninj1), which are relevant to repetitive and anxiety behaviors of neuropsychiatric disorders...
November 5, 2016: Molecular Neurobiology
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