GSE123560 Schizophrenia-related microdeletion causes progressive brain ventricle enlargement through microRNA-dependent deceleration of motile cilia beating

Contributors : Tae-Yeon Eom ; Seung B Han ; Jieun Kim ; Jay Blundon ; Yong-Dong Wang ; Jing Yu ; Matthew Eicholtz ; Derek C Rose ; Kara Anderson ; Damian B Kaminski ; Stanislav S ZakharenkoSeries Type : Non-coding RNA profiling by arrayOrganism : Mus musculusProgressive ventricular enlargement is one of the most reproducible and recognizable structural abnormalities in schizophrenia, and is associated with more severe symptoms and poorer clinical outcome. The mechanisms of ventricular enlargement in schizophrenia is unknown. We identified that progressive ventricular enlargement is associated with deceleration of motile cilia beating in ependymal cells lining ventricular walls in murine models of schizophrenia-associated 22q11 deletion syndrome (22q11DS). The cilia beating deficit is caused by an aberrant elevation of Drd1, which is highly enriched in the motile cilia. Haploinsufficiency of the microRNA-processing gene Dgcr8 is responsible for the Drd1 elevation in ependymal cells of 22q11DS mice, and is mediated by reduction of Drd1-targeting microRNAs miR-674-3p and miR-382-3p. Replenishing miR-674-3p or miR-382-3p in 22q11DS mice rescued the motile cilia beating abnormalities and normalized the ventricular size. Knockdown of these microRNA mimicked cilia beating and ventricular deficits. Ventricular enlargement was also caused by Crispr/cas9-mediated deletion of the Drd1 seed site for miR-674-3p/miR-382-3p. This suggests that Dgcr8-miR-674-3p/miR-382-3p-Drd1 –depende...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Mus musculus Source Type: research

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22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric disorders. Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confers disproportionate risk for schizophrenia. Neurobehavioral profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not been reported.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research
Childhood-onset schizophrenia (COS), a very rare and severe chronic psychiatric condition, is defined by an onset of positive symptoms (delusions, hallucinations and disorganized speech or behavior) before the age of 13. COS is associated with other neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder. Copy number variations (CNVs) represent well documented neurodevelopmental disorder risk factors and, recently, de novo single nucleotide variations (SNVs) in genes involved in brain development have also been implicated in the complex genetic architecture of CO...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Translational Psychiatry, Published online: 18 November 2019; doi:10.1038/s41398-019-0643-yMitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia
Source: Translational Psychiatry - Category: Psychiatry Authors: Source Type: research
Condition:   Di George Syndrome Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: - Category: Research Source Type: clinical trials
This article will discuss some medical conditions that might be seen by orthodontists. Also, recommendations and modifications of the orthodontic treatment plan will be discussed thoroughly.Materials and methodsA computerized electronic search of the literature was conducted in Google Scholar and PubMed and was limited to publications in English.ResultsOrthodontic management was studied in cases of Infective endocarditis (IE), Thrombocytopenia, Hemophilia, Sickle cell anemia, Thalassemia, Diabetes mellitus (DM), Thyroid Disorders, Asthma, DiGeorge Syndrome, HIV/AIDS, Organ transplantation, Orthodontic management, Juvenile ...
Source: International Orthodontics - Category: Dentistry Source Type: research
In conclusion, by investigating memory processes on longer delays than standardized memory tasks, we identified deficits in long-term memory consolidation leading to ALF in 22q11.2DS. Nevertheless, we showed that a subgroup of patients had larger memory consolidation deficit associated with lower intellectual functioning, higher rates of positive psychotic symptoms and hippocampal alterations. PMID: 31460828 [PubMed - as supplied by publisher]
Source: Child Neuropsychology - Category: Child Development Authors: Tags: Child Neuropsychol Source Type: research
Publication date: Available online 5 August 2019Source: The Lancet PsychiatryAuthor(s): Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van AmelsvoortSummary22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial ...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
FINDINGSAn international study led by researchers from the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA has found that people who are born with a genetic disease that greatly increases the risk of developing schizophrenia  have distinctive defects and deficiencies in the white matter of their brains. Researchers compared the brains of people with the genetic disorder, 22q11.2 deletion syndrome, to the brains of healthy people and to the brains of people with the disease who do not have schizophrenia.The brain ’s white matter connects different regions of the brain and...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
(Emory Health Sciences) 3q29 deletion syndrome is a strong risk factor for both schizophrenia and autism spectrum disorder. People with the rare condition have a distinct neuropsychiatric profile, researchers found.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
AbstractBackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described.MethodsWe ascertained individuals with 3q29 deletion syndrome (3q29Del, “cases,”n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry ( Self-report of neuropsychiatric...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
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