Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

2001 ◽  
Vol 36 (2-3) ◽  
pp. 265-274 ◽  
Author(s):  
Stylianos E. Antonarakis ◽  
Robert Lyle ◽  
Roman Chrast ◽  
Hamish S. Scott
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
Differential Gene Expression ◽  
Expression Studies ◽  
Differential Gene ◽  
Gene Expression Studies ◽  
Molecular Pathophysiology

scholarly journals No differential gene expression for CD4+ T cells of MS patients and healthy controls

2019 ◽  
Vol 5 (2) ◽  
pp. 205521731985690 ◽  
Author(s):  
Ina S Brorson ◽  
Anna Eriksson ◽  
Ingvild S Leikfoss ◽  
Elisabeth G Celius ◽  
Pål Berg-Hansen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Multiple Sclerosis ◽  
T Cells ◽  
Differential Gene Expression ◽  
Genetic Variants ◽  
Healthy Controls ◽  
Expression Studies ◽  
Differential Gene ◽  
Gene Expression Studies ◽  
Multiple Sclerosis Patients

Background Multiple sclerosis-associated genetic variants indicate that the adaptive immune system plays an important role in the risk of developing multiple sclerosis. It is currently not well understood how these multiple sclerosis-associated genetic variants contribute to multiple sclerosis risk. CD4+ T cells are suggested to be involved in multiple sclerosis disease processes. Objective We aim to identify CD4+ T cell differential gene expression between multiple sclerosis patients and healthy controls in order to understand better the role of these cells in multiple sclerosis. Methods We applied RNA sequencing on CD4+ T cells from multiple sclerosis patients and healthy controls. Results We did not identify significantly differentially expressed genes in CD4+ T cells from multiple sclerosis patients. Furthermore, pathway analyses did not identify enrichment for specific pathways in multiple sclerosis. When we investigated genes near multiple sclerosis-associated genetic variants, we did not observe significant enrichment of differentially expressed genes. Conclusion We conclude that CD4+ T cells from multiple sclerosis patients do not show significant differential gene expression. Therefore, gene expression studies of all circulating CD4+ T cells may not result in viable biomarkers. Gene expression studies of more specific subsets of CD4+ T cells remain justified to understand better which CD4+ T cell subsets contribute to multiple sclerosis pathology.

scholarly journals Trisomy 21 and Down syndrome: a short review

2008 ◽  
Vol 68 (2) ◽  
pp. 447-452 ◽  
Author(s):  
CA. Sommer ◽  
F. Henrique-Silva
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
Large Scale ◽  
Molecular Mechanisms ◽  
Global Gene Expression ◽  
Short Review ◽  
Complex Disorder ◽  
Expression Studies ◽  
Gene Expression Studies ◽  
Chromosome Segments

Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing our understanding of this complex disorder. Also, mouse models of DS provide invaluable tools to correlate genes or chromosome segments to specific phenotypes. Here we discuss the possible contribution of HSA21 genes to DS and data from global gene expression studies of trisomic samples.

scholarly journals Increased excitatory to inhibitory synaptic ratio in parietal cortex samples from individuals with Alzheimer’s disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Julie C. Lauterborn ◽  
Pietro Scaduto ◽  
Conor D. Cox ◽  
Anton Schulmann ◽  
Gary Lynch ◽  
...  
Keyword(s):  
Gene Expression ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Down Syndrome ◽  
Parietal Cortex ◽  
Direct Evidence ◽  
Synaptic Membranes ◽  
Post Mortem ◽  
Expression Studies ◽  
Gene Expression Studies

AbstractSynaptic disturbances in excitatory to inhibitory (E/I) balance in forebrain circuits are thought to contribute to the progression of Alzheimer’s disease (AD) and dementia, although direct evidence for such imbalance in humans is lacking. We assessed anatomical and electrophysiological synaptic E/I ratios in post-mortem parietal cortex samples from middle-aged individuals with AD (early-onset) or Down syndrome (DS) by fluorescence deconvolution tomography and microtransplantation of synaptic membranes. Both approaches revealed significantly elevated E/I ratios for AD, but not DS, versus controls. Gene expression studies in an independent AD cohort also demonstrated elevated E/I ratios in individuals with AD as compared to controls. These findings provide evidence of a marked pro-excitatory perturbation of synaptic E/I balance in AD parietal cortex, a region within the default mode network that is overly active in the disorder, and support the hypothesis that E/I imbalances disrupt cognition-related shifts in cortical activity which contribute to the intellectual decline in AD.

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