Down syndrome: Neurobiological alterations and therapeutic targets
- Biology, MedicineNeuroscience & Biobehavioral Reviews
Aneuploidy: an important model system to understand salient aspects of functional genomics
- BiologyBriefings in functional genomics
Maintaining a balance in gene dosage and protein activity is essential to sustain normal cellular functions. Males and females have a wide range of genetic as well as epigenetic differences, where…
Epigenetics: Future prospective in human disorders and therapeutics
- Biology, PsychologyMedical Epigenetics
Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome
- BiologyMolecular medicine
It is concluded that cells of subjects with DS are in a pseudo-hypoxic state: the cellular metabolic and bio-energetic mechanisms exhibit pathophysiological alterations that resemble the cellular responses associated with hypoxia, even though the supply of the cells with oxygen is not disrupted.
Nuclear Reorganization in Hippocampal Granule Cell Neurons from a Mouse Model of Down Syndrome: Changes in Chromatin Configuration, Nucleoli and Cajal Bodies
- BiologyInternational journal of molecular sciences
Investigating whether the triplication of this set of Hsa21 orthologous genes in TS mice modifies the nuclear architecture of their GCs found that the GCs of the TS mouse show alterations in the nucleolar fusion pattern and the molecular assembly of Cajal bodies, which could play an important role in the neuromorphological and/or functional alterations of the hippocampal GCs implicated in the cognitive dysfunction characteristic of TS mice.
CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis
- Biology, MedicineNeurological Sciences
A primarily potential link between the CYP1A2 rs762551 polymorphism and ALS risk could exist.
Non-viral and viral delivery systems for CRISPR-Cas9 technology in the biomedical field
- Biology, EngineeringScience China Life Sciences
Non-viral delivery of Cas9 appears to help Cas9 maintain its on-target effect and reduce off-target effects, and viral vectors for sgRNA and donor template can improve the efficacy of genome editing and homology-directed repair.
Alzheimer disease and Apolipoprotein E4: meningeal brain lymphatics point to new clues in pathogenesis
New findings are focused on showing that meningeal lymphatic vessels play a role in drainage of cerebrospinal fluid and egress of immune cells from the brain, and that disrupting this vessel system leads to accumulation of amyloid - beta peptide and cognitive dysfunction.
Cellular Senescence in Neurodegenerative Diseases
- BiologyFrontiers in Cellular Neuroscience
The evidence of the shared neuropathological events in these neurodegenerative diseases and the implication of cellular senescence in their onset or aggravation are summarized.
Apolipoprotein E4 and meningeal lymphatics in Alzheimer disease: a conceptual framework
- Biology, MedicineMolecular Psychiatry
A new conceptual framework is proposed, according to which APOE4 could play a novel role in the premature shrinkage of meningeal lymphatic vessels (meningeal lymphosclerosis), leading to abnormal mening Sealife lymphatic functions ( meningeal lymphedema).
SHOWING 1-10 OF 65 REFERENCES
Down syndrome—recent progress and future prospects
- BiologyHuman molecular genetics
Recent research progress in DS is reviewed, highlighting exciting advances in therapy to improve cognitive function in people with DS and the significant developments in understanding the gene content of Hsa21.
Epigenetics: The neglected key to minimize learning and memory deficits in Down syndrome
- BiologyNeuroscience & Biobehavioral Reviews
Translating Dosage Compensation to Trisomy 21
Down’s syndrome is a common disorder with enormous medical and social costs, caused by trisomy for chromosome 21. We tested the concept that gene imbalance across an extra chromosome can be de facto…
Domains of genome-wide gene expression dysregulation in Down’s syndrome
The results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Understanding the Basis for Down Syndrome Phenotypes
- Biology, MedicinePLoS genetics
This work considers genotype–phenotype interactions with the goal of producing working concepts that will be useful for approaches to ameliorate the effects of trisomy.
Gene expression profiling in the adult Down syndrome brain.
Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in down syndrome
- Biology, PsychologyBMC Medical Genomics
Examination of whole-genome DNA methylation in buccal epithelial cells of 10 adults with DS and 10 controls indicated that both Trisomy 21 and cognitive impairment were associated with distinct patterns ofDNA methylation.
Identification of a DNA methylation signature in blood cells from persons with Down Syndrome
An epigenetic signature of DS is identified that sustains a link between developmental defects and disease phenotype, including segmental premature aging of central nervous and immune systems.
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes.
- Biology, MedicineAmerican journal of human genetics
It is shown that alternative transcripts belonging to the same gene are similarly regulated in Down syndrome but sense and antisense transcripts are not, and most of the chromosome 21 transcripts are compensated for the gene-dosage effect.