ArticleBMC medical genomics2010
Impairment of circulating endothelial progenitors in Down syndrome.
Article in BMC medical genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 45 citations in OpenAlex.
- Efficacy and safety of oral sildenafil in children with Down syndrome and pulmonary hypertension.BMC cardiovascular disorders · 2017Trial
- Epigenetically constrained astrocyte states underlie prefrontal cortex vulnerability in Down syndrome-associated Alzheimer's disease.bioRxiv : the preprint server for biology · 2026Article
- Intracerebral age-independent reduction of endothelium-dependent hyperpolarization and nitric oxide signalling in the Dp16 mouse model of Down syndrome.The Journal of physiology · 2026Article
- A Rare Case of Aortic Dissection 10 Years Post Percutaneous Catheterization Retrieval of an Embolized PDA Device in a Patient with Down Syndrome.Pediatric reports · 2025Article
- Genetic markers involved in neuroinflammation in Down syndrome: a systematic review.Dementia & neuropsychologia · 2025Article
- Preliminary investigation of obstructive sleep apnea and Alzheimer's disease in down syndrome.Sleep advances : a journal of the Sleep Research Society · 2025Article
- Pulmonary arterial hypertension in children with congenital heart disease: a deeper look into the role of endothelial progenitor cells and circulating endothelial cells to assess disease severity.Frontiers in pediatrics · 2023Article
- Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.Human molecular genetics · 2022Article
- Cardiovascular physiology and pathophysiology in Down syndrome.Physiological research · 2022Article
- Network analysis of Down syndrome and SARS-CoV-2 identifies risk and protective factors for COVID-19.Scientific reports · 2021Article
- Article
- iPSC-derived progenitor stromal cells provide new insights into aberrant musculoskeletal development and resistance to cancer in down syndrome.Scientific reports · 2020Article
- Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.Cells · 2020Review
- Prenatal circulating microRNA signatures of foetal Down syndrome.Scientific reports · 2019Article
- Maternal plasma angiogenic and inflammatory factor profiling in foetal Down syndrome.PloS one · 2017Article
- Novel Approach for Evaluation ofFrontiers in microbiology · 2016Article
- Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome.Journal of immunology research · 2016Article
- Novel transcription factor variants through RNA-sequencing: the importance of being "alternative".International journal of molecular sciences · 2015Article
- Article
- PPARG in Human Adipogenesis: Differential Contribution of Canonical Transcripts and Dominant Negative Isoforms.PPAR research · 2014Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome.
methodsCirculating endothelial progenitors of Down syndrome affected individuals were isolated, in vitro cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1α plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of CXCL12 gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis.
resultsWe detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1α plasma levels and their progenitors had a reduced expression of SDF-1α encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells.
conclusionsOur data provide evidences for a reduced number and altered morphology of endothelial progenitor cells in Down syndrome, also showing the higher susceptibility to oxidative stress and to pathogen infection compared to euploid cells, thereby confirming the angiogenesis and immune response deficit observed in Down syndrome individuals.
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