Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders.

Conclusion: Reviewing these data and literature supports the hypothesis suggesting that an association of low-level mosaic aneuploidy with common and, probably, overlapping psychiatric disorders does exist. Accordingly, we propose a pathway for common neuropsychiatric disorders involving increased burden of rare de novo somatic chromosomal mutations manifesting as low-level mosaic aneuploidy mediating local and general brain dysfunction. PMID: 29606903 [PubMed]
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

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Reliably, about once a month, I come across someone who believes that a person who’s been diagnosed with X, Y, or Z mental disorder has, in effect, a life-crippling disability. Somehow they got a hold of the diagnostic manual of mental disorders or read some symptoms or an article or two online, and suddenly they feel like they know everything about a condition. If a person has a disorder like depression, they believe that they know everything they need to know about that person. When I was seeing patients back in graduate school, I sometimes looked at some of them that way too. But in the intervening 20+ years, I&rs...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: General Policy and Advocacy Psychiatry Psychology destigmatization identity Label Mental Health Stereotypes Source Type: blogs
Abstract The MEF2 family of transcription factors regulate large programs of gene expression important for the development and maintenance of many tissues, including the brain. MEF2 proteins are regulated by neuronal synaptic activity, and they recruit several epigenetic enzymes to influence chromatin structure and gene expression during development and throughout adulthood. Here, we provide a brief review of the recent literature reporting important roles for MEF2 during early brain development and function, and we highlight emerging roles for MEF2 as a risk factor for multiple neurodevelopmental disorders and me...
Source: Current Opinion in Neurobiology - Category: Neurology Authors: Tags: Curr Opin Neurobiol Source Type: research
Conclusion: Previous studies and ours suggest an effect of truncating mutations restricted to severe autism-spectrum disorder phenotypes that are associated with intellectual disability. We provide evidence for pleiotropic effects of common and rare variants in the LRP1 gene across psychiatric phenotypes. PMID: 31094488 [PubMed - as supplied by publisher]
Source: Journal of Psychiatry and Neuroscience - Category: Psychiatry Tags: J Psychiatry Neurosci Source Type: research
22q11.2 and 16p11.2 genomic regions are dense with highly conserved brain-expressed genes. While the 22q11.2 deletion and 16p11.2 duplication confer greatly elevated risk for schizophrenia, the reciprocal 22q11.2 duplication and 16p11 deletion have lower risk of schizophrenia than the general population. However, both reciprocal copy number variants (CNVs) are associated with Intellectual Disability and Autism Spectrum Disorder (ASD). This ‘reverse-genetics’ approach can thus elucidate gene dosage effects that may differentiate risk versus protective factors for neuropsychiatric illness.
Source: Biological Psychiatry - Category: Psychiatry Authors: Source Type: research
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
Publication date: Available online 10 May 2019Source: Journal of Psychiatric ResearchAuthor(s): Philip D. Harvey, Elizabeth Deckler, Mackenzie T. Jones, L. Fredrik Jarskog, David L. Penn, Amy E. PinkhamAbstractAutistic traits are a feature of schizophrenia and has been found to impair social functioning and social cognition. Other influences on social outcomes in schizophrenia include depression and social avoidance. However, challenges in self-assessment of abilities and functioning (i.e., introspective accuracy) and self-assessment bias also contribute to disability. Depression has been studied for its association with i...
Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
In this study, we investigated the roles of Mef2c in cerebellar Purkinje cells during the first three  weeks of postnatal development. Our analysis revealed that in comparison to other members of the Mef2 family, Mef2c expression is limited to postnatal Purkinje cells. Because the role of Mef2c has not been assessed in GABAergic neurons, we set out to determine the functional significance of Mef2c by knocking down the expression of Mef2c selectively in Purkinje cells. We found that the loss of Mef2c expression during the first and second postnatal week results in an increase in dendritic arborization without impact on...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
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
Conclusion: Fun seeking on the BAS and frustration intolerance should be considered as targets in prevention and intervention programs for IA among adolescents with ADHD.IntroductionThe negative effects of internet addiction (IA) have become a concern in the past decades. IA is characterized by persistent internet use despite negative consequences, loss of control, preoccupation with internet use, increasing amounts of time spent online, and withdrawal symptoms (1). Internet gaming disorders are listed in the “Conditions for Further Study” section in the Fifth Edition of Diagnostic and Statistical Manual of Men...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Abstract Over the past 20 years the structure and function of Reelin, an extracellular glycoprotein with a role in cell migration and positioning during development has been elucidated. Originally discovered in mice exhibiting a peculiar gait and hypoplastic cerebellar tissue, Reelin is secreted from Cajal-Retzius neurons during embryonic life and has been shown to act as a stop signal, guiding migrating radial neurons in a gradient-dependent manner. Reelin carries out its function by binding to the receptors, very low-density lipoprotein receptor (VLDLR) and apolipoprotein E receptor 2 (ApoER2) resulting in the p...
Source: The International Journal of Biochemistry and Cell Biology - Category: Biochemistry Authors: Tags: Int J Biochem Cell Biol Source Type: research
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