The Molecular Roots Of Down Syndrome Unraveled

What is it about the extra chromosome inherited in Down syndrome - chromosome 21 - that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. The study, published in Nature Medicine, shows that SNX27 is reduced in human Down syndrome brains. The extra copy of chromosome 21 means a person with Down syndrome produces less SNX27 protein, which in turn disrupts brain function...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Pediatrics / Children's Health Source Type: news

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In this study, we found that the expressions of DSCR1-1L mRNA and proteins were upregulated by other angiogenic factors, including VEGF-A121, VEGF-E, histamine, PAF, the endothelial cell (EC) growth medium, and the conditional medium obtained from cancer cells, but not by PlGF, bFGF, PDGF, and serotonin. The EC proliferation, migration and elongation induced by histamine and EC growth medium were inhibited by knocking down the mRNA and protein expressions of DSCR1-1L and TEF3. The TEF3 activation was regulated by its interaction with YAP1, and translocation from cytosol to nuclei, but not by increase of protein expression,...
Source: Microvascular Research - Category: Biochemistry Source Type: research
ConclusionsFixation for cervical instability is a critical component of the management of DS. A minority of patients receiving surgery were identified through asymptomatic screening. There was a high complication risk associated with surgery in our study; however, the addition of rigid fixation has lessened the complication rate compared with previous studies.Level of EvidenceLevel IV.
Source: Spine Deformity - Category: Orthopaedics Source Type: research
ConclusionsObtaining a single NUL radiograph is an efficient method for radiographic screening of cervical spine instability. Further evaluation may be required if abnormal measurements are identified on the NUL radiograph. We also propose new “normal” values for the common radiographic measurements used in assessing risk of cervical spine instability in patients with Down syndrome.Level of EvidenceLevel IV.
Source: Spine Deformity - Category: Orthopaedics Source Type: research
pirat Chaikuad Conrad Kunick Since hyperactivity of the protein kinase DYRK1A is linked to several neurodegenerative disorders, DYRK1A inhibitors have been suggested as potential therapeutics for Down syndrome and Alzheimer’s disease. Most published inhibitors to date suffer from low selectivity against related kinases or from unfavorable physicochemical properties. In order to identify DYRK1A inhibitors with improved properties, a series of new chemicals based on [b]-annulated halogenated indoles were designed, synthesized, and evaluated for biological activity. Analysis of crystal structures revealed a ty...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
Genetics in Medicine, Published online: 12 November 2019; doi:10.1038/s41436-019-0699-3Detection of iron deficiency in children with Down syndrome
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
Authors: Pramono LA, Yuwono A Abstract Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low....
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research
Publication date: Available online 9 November 2019Source: NeuroImage: ClinicalAuthor(s): N. Khalili, E. Turk, M.J.N.L. Benders, P. Moeskops, N.H.P. Claessens, R. de Heus, A. Franx, N. Wagenaar, J.M.P.J. Breur, M.A. Viergever, I. IšgumAbstractMR images of infants and fetuses allow non-invasive analysis of the brain. Quantitative analysis of brain development requires automatic brain tissue segmentation that is typically preceded by segmentation of the intracranial volume (ICV). Fast changes in the size and morphology of the developing brain, motion artifacts, and large variation in the field of view make ICV segmenta...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
Publication date: Available online 7 November 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Léa Dumortier, Véronique-Aurélie BricoutAbstractIndividuals with Down syndrome present many clinical characteristics, such as metabolic, endocrine, anatomic and neurologic dysfunctions, that contribute to the physiopathology of obstructive sleep apnea syndrome (OSAS). As a result, sleep apnea prevalence is significantly greater in population with Down syndrome, and may have critical consequences on health and quality of life, such as cardiovascular risks and obesity.This paper compiles a list of ...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Title: Study: Aging With Down Syndrome Means Huge Alzheimer's RiskCategory: Health NewsCreated: 11/7/2019 12:00:00 AMLast Editorial Review: 11/8/2019 12:00:00 AM
Source: MedicineNet Alzheimer - Category: Geriatrics Source Type: news
ConclusionsOocytes with premeiotic errors will significantly contribute to the high level of preimplantation and prenatal death. Data so far available suggests that, depending upon the maternal age, up to 40% of aneuploidy that is present in oocytes at the end of meiosis I may be due to germinal mosaicism.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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