Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), is the most common genetic cause of intellectual disability. The Dp10(1)Yey (Dp10) is a mouse model of DS that is trisomic for orthologs of 25% of the Hsa21 protein-coding genes, the entirety of the Hsa21 syntenic region on mouse chromosome 10. Trisomic genes include several involved in brain development and function, two that modify and regulate the activities of sex hormones, and two that produce sex-specific phenotypes as null mutants. These last four are the only Hsa21 genes with known sexually dimorphic properties. Relatively little is known about the potential contributions to the DS phenotype of segmental trisomy of Mmu10 orthologs. Here, we have tested separate cohorts of female and male Dp10 mice, at 3 and 9 months of age, in an open field elevated zero maze, rotarod, and balance beam, plus the learning and memory tasks, spontaneous alternation, puzzle box, double-H maze, context fear conditioning, and acoustic startle/prepulse inhibition, that depend upon the function of the prefrontal cortex, striatum, hippocampus, and cerebellum. We show that there are age and sex-specific differences in strengths and weaknesses, suggesting that genes within the telomere proximal region of Hsa21 influence the DS phenotype.
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http://dx.doi.org/10.3390/genes12111697 | DOI Listing |
Alzheimers Dement
January 2025
Department of Neuroscience, City University of Hong Kong, Hong Kong, Hong Kong.
Introduction: Antisense oligonucleotides (ASOs) have shown promise in reducing amyloid precursor protein (APP) levels in neurons, but their effects in astrocytes, key contributors to neurodegenerative diseases, remain unclear. This study evaluates the efficacy of APP ASOs in astrocytes derived from an individual with Down syndrome (DS), a population at high risk for Alzheimer's disease (AD).
Methods: Human induced pluripotent stem cells (hiPSCs) from a healthy individual and an individual with DS were differentiated into astrocytes.
Asian Pac J Cancer Prev
January 2025
Principal Scientific Officer & Molecular Advisor, Rajiv Gandhi Cancer Institute & Research Centre, New Delhi, India.
Chronic lymphocytic leukemia (CLL) is a less common hematological malignancy in Indian people. It accounts for less than 5% of all leukemias. Information on genomic alteration in CLL is limited immunoglobulin heavy-chain variable region (IGHV) mutational status is considered the most reliable prognostic marker.
View Article and Find Full Text PDFPLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Cells
January 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Acute lymphoblastic leukaemia is the most common childhood malignancy that remains a leading cause of death in childhood. It may be characterised by multiple known recurrent genetic aberrations that inform prognosis, the most common being hyperdiploidy and t(12;21) . We aimed to assess the applicability of a new imaging flow cytometry methodology that incorporates cell morphology, immunophenotype, and fluorescence in situ hybridisation (FISH) to identify aneuploidy of chromosomes 4 and 21 and the translocation .
View Article and Find Full Text PDFBrain Sci
December 2024
Department of Health and Human Physiology, University of Iowa, Iowa City, IA 52242, USA.
Background/objectives: Cognitive functions are a crucial part of daily living, especially for adults with Down syndrome (DS) who have a high likelihood of developing Alzheimer's disease in adulthood. In addition, adults with DS move slower and are not meeting the standard aerobic activity guidelines each week. The aim of this study was to examine if Assisted Cycle Therapy (ACT) would improve cognitive planning as measured by the Tower of London (TOL), set switching as measured by the modified Wisconsin Card Sorting Test, and spatial memory as measured by the Corsi Block Test in adults with DS as compared to self-paced cycling.
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