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Neurodevelopmental Syndromes

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https://www.readbyqxmd.com/read/28933765/potential-role-of-microtubule-stabilizing-agents-in-neurodevelopmental-disorders
#1
REVIEW
Sara Anna Bonini, Andrea Mastinu, Giulia Ferrari-Toninelli, Maurizio Memo
Neurodevelopmental disorders (NDDs) are characterized by neuroanatomical abnormalities indicative of corticogenesis disturbances. At the basis of NDDs cortical abnormalities, the principal developmental processes involved are cellular proliferation, migration and differentiation. NDDs are also considered "synaptic disorders" since accumulating evidence suggests that NDDs are developmental brain misconnection syndromes characterized by altered connectivity in local circuits and between brain regions. Microtubules and microtubule-associated proteins play a fundamental role in the regulation of basic neurodevelopmental processes, such as neuronal polarization and migration, neuronal branching and synaptogenesis...
July 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#2
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28931890/pathogenesis-of-lethal-aspiration-pneumonia-in-mecp2-null-mouse-model-for-rett-syndrome
#3
Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931574/enhanced-nociception-in-angelman-syndrome-model-mice
#4
Eric S McCoy, Bonnie Taylor-Blake, Megumi Aita, Jeremy M Simon, Benjamin D Philpot, Mark J Zylka
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal UBE3A allele. The maternal UBE3A allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal UBE3A allele is repressed by an extremely long antisense transcript (UBE3A-ATS). Little is known about expression of UBE3A in the peripheral nervous system, where loss of maternal UBE3A might contribute to AS phenotypes. Here we sought to examine maternal and paternal Ube3a expression in dorsal root ganglia (DRG) neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal Ube3a allele; Ube3a(m-/p+) )...
September 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28927958/defective-gabaergic-neurotransmission-in-the-nucleus-tractus-solitarius-in-mecp2-null-mice-a-model-of-rett-syndrome
#5
Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A Rogawski, Izumi Maezawa, Lee-Way Jin
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature of RTT. The nucleus tractus solitarius (NTS) is the first central site integrating respiratory sensory information that can change the nature of the reflex output. We hypothesized that deficiency in Mecp2 gene reduces GABAergic neurotransmission in the NTS...
September 16, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#6
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/28923474/beyond-the-inhaled-nitric-oxide-in-persistent-pulmonary-hypertension-of-the-newborn
#7
REVIEW
Mei-Yin Lai, Shih-Ming Chu, Satyan Lakshminrusimha, Hung-Chih Lin
Persistent pulmonary hypertension (PPHN) is a consequence of failed pulmonary vascular transition at birth and leads to pulmonary hypertension with shunting of deoxygenated blood across the ductus arteriosus (DA) and foramen ovale (FO) resulting in severe hypoxemia, and it may eventually lead to life-threatening circulatory failure. PPHN is a serious event affecting both term and preterm infants in the neonatal intensive care unit. It is often associated with diseases such as congenital diaphragmatic hernia, meconium aspiration, sepsis, congenital pneumonia, birth asphyxia and respiratory distress syndrome...
August 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28923376/visuo-spatial-construction-trajectories-in-fragile-x-syndrome-fxs-and-autism-spectrum-disorders-asd-evidence-of-cognitive-heterogeneity-within-neurodevelopmental-conditions
#8
Carrie J Ballantyne, María Núñez, Kallia Manoussaki
BACKGROUND/AIMS: There have been discrepancies reported in visuo-spatial construction ability in children with Autism Spectrum Disorders (ASD), fragile X Syndrome (FXS) and those with a comorbid diagnosis of FXS and ASD (AFXS). This study aimed to provide a better understanding of the visuo-spatial processing styles in these heterogeneous neurodevelopmental disorders. METHODS AND PROCEDURE: Navon-type tasks were used to assess visuo-spatial construction ability across 5 groups of children: typically developing, FXS, AFXS, ASD children who scored low-moderate (HFA) and ASD children that scored severe (LFA) on the Childhood Autism Rating Scale (CARS)...
September 15, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28922267/the-1-year-follow-up-clinic-for-neonates-and-children-after-respiratory-extracorporeal-membrane-oxygenation-support-a-10-year-single-institution-experience
#9
Suzan Kakat, Maura O'Callaghan, Liz Smith, Raymond Hreiche, Deborah A Ridout, Jo Wray, Timothy Thiruchelvam, Katherine L Brown, Aparna U Hoskote
OBJECTIVES: To establish the effectiveness of a "1-year extracorporeal membrane oxygenation follow-up clinic" and to characterize any neurodevelopmental concerns identified. DESIGN: Single-center retrospective cohort of respiratory extracorporeal membrane oxygenation survivors over 10 years. SETTING: Nationally commissioned center for neonatal and pediatric (> 28 d of life) respiratory extracorporeal membrane oxygenation. PATIENTS: Children attending the follow-up clinic 1 year after receiving respiratory extracorporeal membrane oxygenation between 2003 and 2013...
September 15, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28921675/altered-cav1-2-function-in-the-timothy-syndrome-mouse-model-produces-ascending-serotonergic-abnormalities
#10
Daniel G Ehlinger, Kathryn G Commons
Polymorphism in the gene CACNA1C, encoding the pore-forming subunit of Cav1.2 L-type calcium channels, has one of the strongest genetic linkages to schizophrenia, bipolar disorder, and major depressive disorder: psychopathologies in which serotonin signaling has been implicated. Additionally, a gain-of-function mutation in CACNA1C is responsible for the neurodevelopmental disorder Timothy Syndrome that presents with prominent behavioral features on the autism spectrum. Given an emerging role for serotonin in the etiology of autism spectrum disorders, we investigate the relationship between Cav1...
September 16, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28920956/biotin-tagging-of-mecp2-in-mice-reveals-contextual-insights-into-the-rett-syndrome-transcriptome
#11
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zhou
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT. Here we developed a Cre-inducible method for cell-type-specific biotin tagging of MeCP2 in mice. Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons...
September 18, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#12
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28915148/adult-fmr1-knockout-mice-present-with-deficiencies-in-hippocampal-interleukin-6-and-tumor-necrosis-factor-%C3%AE-expression
#13
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/28902840/maternal-gut-bacteria-promote-neurodevelopmental-abnormalities-in-mouse-offspring
#14
Sangdoo Kim, Hyunju Kim, Yeong Shin Yim, Soyoung Ha, Koji Atarashi, Tze Guan Tan, Randy S Longman, Kenya Honda, Dan R Littman, Gloria B Choi, Jun R Huh
Maternal immune activation (MIA) contributes to behavioural abnormalities associated with neurodevelopmental disorders in both primate and rodent offspring. In humans, epidemiological studies suggest that exposure of fetuses to maternal inflammation increases the likelihood of developing autism spectrum disorder. In pregnant mice, interleukin-17a (IL-17a) produced by T helper 17 (TH17) cells (CD4(+) T helper effector cells involved in multiple inflammatory conditions) induces behavioural and cortical abnormalities in the offspring exposed to MIA...
September 13, 2017: Nature
https://www.readbyqxmd.com/read/28902066/latent-class-analysis-of-adhd-neurodevelopmental-and-mental-health-comorbidities
#15
Benjamin Zablotsky, Matthew D Bramlett, Susanna N Visser, Melissa L Danielson, Stephen J Blumberg
OBJECTIVE: Many children diagnosed with attention-deficit/hyperactivity disorder (ADHD) experience co-occurring neurodevelopmental and psychiatric disorders, and those who do often exhibit higher levels of impairment than children with ADHD alone. This study provides a latent class analysis (LCA) approach to categorizing children with ADHD into comorbidity groups, evaluating condition expression and treatment patterns in each group. METHODS: Parent-reported data from a large probability-based national sample of children diagnosed with ADHD (2014 National Survey of the Diagnosis and Treatment of ADHD and Tourette Syndrome) were used for an LCA to identify groups of children with similar groupings of neurodevelopmental and psychiatric comorbidities among children with current ADHD (n = 2495)...
September 8, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28900386/altered-developmental-expression-of-the-astrocyte-secreted-factors-hevin-and-sparc-in-the-fragile-x-mouse-model
#16
Jessica Wallingford, Angela L Scott, Kelly Rodrigues, Laurie C Doering
Astrocyte dysfunction has been indicated in many neurodevelopmental disorders, including Fragile X Syndrome (FXS). FXS is caused by a deficiency in fragile X mental retardation protein (FMRP). FMRP regulates the translation of numerous mRNAs and its loss disturbs the composition of proteins important for dendritic spine and synapse development. Here, we investigated whether the astrocyte-derived factors hevin and SPARC, known to regulate excitatory synapse development, have altered expression in FXS. Specifically, we analyzed the expression of these factors in wild-type (WT) mice and in fragile X mental retardation 1 (Fmr1) knock-out (KO) mice that lack FMRP expression...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#17
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28894505/increased-mitochondrial-mass-and-cytosolic-redox-imbalance-in-hippocampal-astrocytes-of-a-mouse-model-of-rett-syndrome-subcellular-changes-revealed-by-ratiometric-imaging-of-jc-1-and-rogfp1-fluorescence
#18
Dörthe F Bebensee, Karolina Can, Michael Müller
Rett syndrome (RTT) is a neurodevelopmental disorder with mutations in the MECP2 gene. Mostly girls are affected, and an apparently normal development is followed by cognitive impairment, motor dysfunction, epilepsy, and irregular breathing. Various indications suggest mitochondrial dysfunction. In Rett mice, brain ATP levels are reduced, mitochondria are leaking protons, and respiratory complexes are dysregulated. Furthermore, we found in MeCP2-deficient mouse (Mecp2(-/y) ) hippocampus an intensified mitochondrial metabolism and ROS generation...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28894415/loss-of-fmrp-impaired-hippocampal-long-term-plasticity-and-spatial-learning-in-rats
#19
Yonglu Tian, Chaojuan Yang, Shujiang Shang, Yijun Cai, Xiaofei Deng, Jian Zhang, Feng Shao, Desheng Zhu, Yunbo Liu, Guiquan Chen, Jing Liang, Qiang Sun, Zilong Qiu, Chen Zhang
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the FMR1 gene that inactivate expression of the gene product, the fragile X mental retardation 1 protein (FMRP). In this study, we used clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) technology to generate Fmr1 knockout (KO) rats by disruption of the fourth exon of the Fmr1 gene. Western blotting analysis confirmed that the FMRP was absent from the brains of the Fmr1 KO rats (Fmr1(exon4-KO) )...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28882412/a-flavonoid-agonist-of-the-trkb-receptor-for-bdnf-improves-hippocampal-neurogenesis-and-hippocampus-dependent-memory-in-the-ts65dn-mouse-model-of-ds
#20
Fiorenza Stagni, Andrea Giacomini, Sandra Guidi, Marco Emili, Beatrice Uguagliati, Maria Elisa Salvalai, Valeria Bortolotto, Mariagrazia Grilli, Roberto Rimondini, Renata Bartesaghi
Intellectual disability is the unavoidable hallmark of Down syndrome (DS), with a heavy impact on public health. Reduced neurogenesis and impaired neuron maturation are considered major determinants of altered brain function in DS. Since the DS brain starts at a disadvantage, attempts to rescue neurogenesis and neuron maturation should take place as soon as possible. The brain-derived neurotrophic factor (BDNF) is a neurotrophin that plays a key role in brain development by specifically binding to tropomyosin-related kinase receptor B (TrkB)...
September 4, 2017: Experimental Neurology
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