T124. Proteomic Profiling of the 16p11.2 Microduplication Mouse Model: Implications for Neuropsychiatric Disease

The 16p11.2 microduplication is a rare form of chromosomal rearrangement that confers risk of multiple neuropsychiatric conditions including, schizophrenia, autism spectrum disorder, intellectual disability, bipolar disorder and Rolandic epilepsy. The 16p11.2 chromosomal region contains 27 protein-coding genes however, the mechanism by which altered gene dosage in this region increases disease risk is still incompletely understood.
Source: Biological Psychiatry - Category: Psychiatry Authors: Source Type: research

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Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
In this study we used: i) summary statistics from the Psychiatric Genomics Consortium (PGC) GWAS for seven psychiatric disorders; ii) examined all reportedCNTNAP2 structural variants in patients and controls; iii) performed cross-disorder analysis of functional or previously associated SNPs; and iv) conducted burden tests for pathogenic rare variants using sequencing data (4,483 ASD and 6,135 schizophrenia cases, and 13,042 controls). The distribution of CNVs acrossCNTNAP2 in psychiatric cases from previous reports was no different from controls of the database of genomic variants. Gene-based association testing did not im...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionsThe findings suggest that the stigma associated with parenting a child with disabilities may be one mechanism that places such parents at risk for poor health. Efforts to alleviate the stigma associated with developmental disorders or mental health problems may have beneficial effects on health of parents of individuals with such conditions.
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Publication date: July 2018Source: The Lancet Psychiatry, Volume 5, Issue 7Author(s): Line Olsen, Thomas Sparsø, Shantel M Weinsheimer, Marcelo Bertalan Quintanilha Dos Santos, Wiktor Mazin, Anders Rosengren, Xabier Calle Sanchez, Louise K Hoeffding, Henriette Schmock, Marie Baekvad-Hansen, Jonas Bybjerg-Grauholm, Mark J Daly, Benjamin M Neale, Marianne G Pedersen, Esben Agerbo, Ole Mors, Anders Børglum, Merete Nordentoft, David M Hougaard, Preben Bo MortensenSummaryBackgroundAlthough the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
α 7-nACh is one of the major nicotinic cholinergic receptor subtypes found in the brain. It is broadly expressed in the hippocampal and cortical neurons, the regions which play a key role in memory formation. Although α 7-nACh receptors may serve as postsynaptic receptors mediating classical neurotransmission, they usually function as presynaptic modulators responsible for the release of other neurotransmitters, such as glutamate, γ -aminobutyric acid, dopamine, and norepinephrine. They can, therefore, affect a wide array of neurobiological functions. In recent years, research has found that a large numbe...
Source: Postepy higieny i medycyny doswiadczalnej - Category: Research Tags: Review article Source Type: research
ppi P Abstract Altered synaptic function has been associated with neurological and psychiatric conditions including intellectual disability, schizophrenia and autism spectrum disorder (ASD). Amongst the recently discovered synaptic proteins is p140Cap, an adaptor that localizes at dendritic spines and regulates their maturation and physiology. We recently showed that p140Cap knockout mice have cognitive deficits, impaired long-term potentiation (LTP) and long-term depression (LTD), and immature, filopodia-like dendritic spines. Only a few p140Cap interacting proteins have been identified in the brain and the molec...
Source: Genomics Proteomics ... - Category: Genetics & Stem Cells Authors: Tags: Front Mol Neurosci Source Type: research
CONCLUSIONS: Siblings of a child with CP were at increased risk for a variety of other neurodevelopmental morbidities, as well as early death, indicating the presence of shared underlying causes.
Source: PEDIATRICS - Category: Pediatrics Authors: Tags: Developmental/Behavioral Pediatrics, Children With Special Health Care Needs Article Source Type: research
Publication date: March 2015 Source:Research in Developmental Disabilities, Volume 38 Author(s): Vincent Guinchat , Cora Cravero , Lautaro Diaz , Didier Périsse , Jean Xavier , Claire Amiet , Isabelle Gourfinkel-An , Nicolas Bodeau , Lee Wachtel , David Cohen , Angèle Consoli During adolescence, some individuals with autism spectrum disorder (ASD) engage in severe challenging behaviors, such as aggression, self-injury, disruption, agitation and tantrums. We aimed to assess risk factors associated with very acute behavioral crises in adolescents with ASD admitted to a dedicated neurobehavioral unit. We inclu...
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
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