Down syndrome neurons grown from stem cells show signature problems

(University of Wisconsin-Madison) In new research published this week, Anita Bhattacharyya, a neuroscientist at the Waisman Center at the University of Wisconsin-Madison, reports on brain cells that were grown from skin cells of individuals with Down syndrome.
Source: EurekAlert! - Social and Behavioral Science - Category: Global & Universal Source Type: news

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Contributors : Jan T Czerminski ; Jeanne B LawrenceSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAlthough Down Syndrome (DS) is the leading genetic cause of intellectual disability in children, the developmental pathogenesis remains largely unknown, and better strategies are needed to investigate this. We previously showed that one copy of chromosome 21 can be epigenetically silenced in DS iPSCs by insertion of an XIST transgene, which produces a non-coding RNA that normally silences one X chromosome in female cells. XIST was shown to induce heterochromatin and silence transcription...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Jan T Czerminski ; Jeanne B LawrenceSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAlthough Down Syndrome (DS) is the leading genetic cause of intellectual disability in children, the developmental pathogenesis remains largely unknown, and better strategies are needed to investigate this. We previously showed that one copy of chromosome 21 can be epigenetically silenced in DS iPSCs by insertion of an XIST transgene, which produces a non-coding RNA that normally silences one X chromosome in female cells. XIST was shown to induce heterochromatin and silence transcription...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Ubiquitin Specific Peptidase 16 (USP16) has been reported to contribute to somatic stem-cell defects in Down syndrome. However, how this gene being regulated is largely unknown. To study the mechanism underlying
Source: Molecular Brain - Category: Neuroscience Authors: Tags: Research Source Type: research
Abstract Studies in mice suggest that Olig2 gene dosage alters cerebral cortical interneuron development and contributes to trisomy-21/Down-syndrome-related intellectual disability. Xu et al. (2019) extend these studies through the remarkable use of cerebral organoid and human iPSC/mouse brain chimera experimental systems that provide an opportunity for the development of novel therapeutics. PMID: 31173710 [PubMed - in process]
Source: Cell Stem Cell - Category: Stem Cells Authors: Tags: Cell Stem Cell Source Type: research
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
In this study, the lung adenocarcinoma patients and granuloma patients were treated as positive samples and negative samples, respectively. We used weighted accuracy to evaluate the RIPPER prediction performance, i.e., the average of the accuracies of positive samples and negative samples. Results The Discriminative MicroRNAs Between Lung Adenocarcinoma and Granuloma Patients in Whole Plasma, EV, and EV-Free Plasma The miRNA expression profiles of lung adenocarcinoma and granuloma patients in whole plasma, EV and EV-free plasma were analyzed separately. In whole plasma, the top 10 discriminative miRNAs were hsa-miR-223-...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractDown syndrome (DS) or trisomy 21 (T21) is a leading genetic cause of intellectual disability. To gain insights into dynamics of molecular perturbations during neurogenesis in DS, we established a model using induced pluripotent stem cells (iPSC) with transcriptome profiles comparable to that of normal fetal brain development. When applied on iPSCs with T21, transcriptome and proteome signatures at two stages of differentiation revealed strong temporal dynamics of dysregulated genes, proteins and pathways belonging to 11 major functional clusters. DNA replication, synaptic maturation and neuroactive clusters were di...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Adauto Lima Cardoso1, Bruno Evaristo de Almeida Fantinatti1, Natália Bortholazzi Venturelli1, Bianca de Oliveira Carmello1, Rogério Antonio de Oliveira2 and Cesar Martins1* 1Integrative Genomics Laboratory, Department of Morphology, Institute of Biosciences, São Paulo State University – Universidade Estadual Paulista, Botucatu, Brazil 2Department of Biostatistics, Institute of Biosciences, São Paulo State University – Universidade Estadual Paulista, Botucatu, Brazil Supernumerary B chromosomes are dispensable elements found in several groups of eukaryotes, and their impact...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 11 February 2019Source: Molecular and Cellular NeuroscienceAuthor(s): Juan José Casañas, Macarena González-Corrales, Jesús David Urbano-Gámez, Alexandra Alves-Sampaio, José Antonio Troca-Marín, María Luz MontesinosAbstractTrisomy 21, also known as Down syndrome (DS), is the most frequent genetic cause of intellectual impairment. In mouse models of DS, deficits in hippocampal synaptic plasticity have been observed, in conjunction with alterations to local dendritic translation that are likely to influence plasticity, learning and memo...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
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