Neuroscientists find protein linked to cognitive deficits in Angelman syndrome

(New York University) A team of neuroscientists has identified a protein in laboratory mice linked to impairments similar to those afflicted with Angelman syndrome -- a condition associated with symptoms that include autism, intellectual disability, and motor abnormalities.
Source: EurekAlert! - Social and Behavioral Science - Category: Global & Universal Source Type: news

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ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Contributors : Lee Koyavski ; Lilach Simchi ; Lital Sharvit ; Hanoch Kaphzan ; Julia Panov ; Prudhvi R Rayi ; Yonatan FeuermannSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusAngelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, andseizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS equalprevalence in males and females, not much data on how sex affects the syndrome was reported. In the herein study, we thoroughlycharacterized many behavioral pheno...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Nagore Elu1, Nerea Osinalde2, Javier Beaskoetxea1, Juanma Ramirez1, Benoit Lectez1, Kerman Aloria3, Jose Antonio Rodriguez4, Jesus M. Arizmendi1 and Ugo Mayor1,5* 1Department of Biochemistry and Molecular Biology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain 2Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain 3Proteomics Core Facility-SGIKER, University of the Basque Country (UPV/EHU), Leioa, Spain 4Department of Genetics, Physical Anthropology and Animal Physiology, University of ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
AbstractAngelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, and seizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS equal prevalence in males and females, not much data on how sex affects the syndrome was reported. In the herein study, we thoroughly characterized many behavioral phenotypes of AS mice. The behavioral data acquired was analyzed with respect to sex. In addition, we generated a new mRNA sequencing dataset. We analyzed the coding transcriptome expression profiles with res...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
ConclusionsThese findings indicate good tolerability of ERP procedures (85% success rate). The lack of own name differentiation is consistent with increased incidence of the autism ‐related symptoms in AS. Strong associations between the caregiver reports of adaptive functioning and neural indices of known name recognition support the utility of brain‐based measures for objectively evaluating cognitive and affective processes in nonverbal persons with neurodevelopmental di sorders.
Source: Journal of Intellectual Disability Research - Category: Disability Authors: Tags: Original Manuscript Source Type: research
ConclusionsOur study provides a useful tool for preclinical drug testing to identify treatments for Angelman syndrome. Since the phenotypes are observed in several independently derivedUbe3a lines, the test battery can also be employed to investigate the effect of specificUbe3a mutations on these phenotypes.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
AbstractChromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for devel...
Source: Neuroscience Bulletin - Category: Neuroscience Source Type: research
ConclusionsWe demonstrate two quantitative readouts of dysregulated sleep composition in children with AS —gamma coherence and spindles—and describe how functional connectivity patterns may be disrupted during wakefulness. Quantitative EEG phenotypes have potential as biomarkers and readouts of target engagement for future clinical trials and provide clues into how neural circuits are dysregulated i n children with AS.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers.MethodsThe modified version of Simonds and Parraga ’s sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2–15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47)....
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
AbstractAngelman 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 geneUBE3A, which is located in this region, and it has been shown that ...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
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