{"id":157333,"date":"2024-08-15T11:13:19","date_gmt":"2024-08-15T17:13:19","guid":{"rendered":"https:\/\/www.globaldownsyndrome.org\/?p=157333"},"modified":"2024-08-15T11:26:29","modified_gmt":"2024-08-15T17:26:29","slug":"groundbreaking-crnic-institute-study-discovers-differences-in-oxygen-physiology-in-people-with-down-syndrome","status":"publish","type":"post","link":"https:\/\/www.globaldownsyndrome.org\/es\/groundbreaking-crnic-institute-study-discovers-differences-in-oxygen-physiology-in-people-with-down-syndrome\/","title":{"rendered":"Groundbreaking Crnic Institute Study Discovers Differences in Oxygen Physiology in People with Down Syndrome"},"content":{"rendered":"

Denver, Aug. 15, 2024 (GLOBE NEWSWIRE) —\u00a0A groundbreaking new study<\/a> published in\u00a0C<\/em>ell Reports<\/em>\u00a0by researchers from the Instituto Linda Crnic para el S\u00edndrome de Down<\/a> (Crnic Institute) at the University of Colorado Anschutz Medical Campus<\/a> reports important differences in oxygen physiology and red blood cell function in individuals with Down syndrome. The study is part of the ongoing Human Trisome Project<\/a>, a large and detailed cohort study of the population with Down syndrome, including deep annotation of clinical data, the largest biobank for the study of Down syndrome to date, and multi-omics datasets.<\/p>\n

The Crnic Institute team first analyzed hundreds of blood samples to identify physiological differences between research participants with Down syndrome versus controls from the general population. They observed that triplication of chromosome 21, or trisomy 21, the chromosomal abnormality that causes Down syndrome, leads to a physiological state reminiscent of hypoxia, or low oxygen. They identified major changes in gene expression indicative of low oxygen availability, including induction of many hypoxia-inducible genes and proteins, as well as increased levels of factors involved in the synthesis of heme, the molecule that transports oxygen inside red blood cells.<\/p>\n

\u201cThese results reveal that hypoxia and hypoxic signaling should be front and center when we talk about the health of people with Down syndrome,\u201d says Dr. Joaqu\u00edn Espinosa, executive director of the Crnic Institute, professor of Pharmacology, Principal Investigator of the Human Trisome Project, and one of the senior authors of the paper. \u201cGiven the critical role of oxygen physiology in health and disease, we need to understand the causes and consequences of hypoxia in Down syndrome, which could lead to effective interventions to improve oxygen availability in this deserving population.\u201d<\/p>\n

\"\"<\/p>\n

\u201cThe results are remarkable, it is safe to say that the blood of people with Down syndrome looks like that of someone who was quickly transported to a high altitude or who was injected with erythropoietin (EPO), the master regulator of erythropoiesis, the process of new red blood cell formation\u201d explains Dr. Micah Donovan, lead author of the paper. \u00a0\u201cAlthough it has been known for many years that people with Down syndrome have fewer and bigger red blood cells, this is the first demonstration that they overproduce EPO and that they are undergoing stress erythropoiesis, a phenomenon whereby the liver and the spleen need to start producing red blood cells to supplement those arising from the bone marrow.”<\/p>\n

The team discovered that these phenomena are also observed in a mouse model of Down syndrome, thus reinforcing the idea that these important physiological changes arise from triplication of genetic material and overexpression of specific genes.<\/p>\n

\u201cThe fact that hypoxic signaling and stress erythropoiesis are conserved in the mouse model paves the way for mechanistic investigations that could identify the genes involved and reveal therapeutic interventions to improve oxygen physiology in Down syndrome,\u201d explains Dr. Kelly Sullivan, associate professor of pediatrics, Director of the Experimental Models Program at the Crnic Institute, and co-author in the study.<\/p>\n

The study team also investigated whether the elevated hypoxic signaling and associated stress erythropoiesis was tied to the heightened inflammatory state characteristic of Down syndrome. Although individuals with the stronger hypoxic signatures show more pronounced dysregulation of the immune system and elevated markers of inflammation, their results indicate that lowering inflammation does not suffice to reverse the hypoxic state.<\/p>\n

\u201cWe will need a lot more data to understand what is causing the hypoxic state and its impacts on the health of people with Down syndrome,\u201d says Dr. Matthew Galbraith, assistant research professor of pharmacology, Director of the Data Sciences Program at the Crnic Institute, and one of the senior authors of the paper. \u201cThe hypoxic state could be caused by obstructive sleep apnea (which is common in Down syndrome), cardiopulmonary malfunction, or even perhaps defects in red blood cell function. We are very excited about several ongoing clinical trials funded by the NIH INCLUDE Project<\/a> for obstructive sleep apnea in Down syndrome, which we believe will be very informative.\u201d<\/p>\n

The Crnic Institute study team is already planning several follow up studies, with the explicit goal of illuminating strategies to improve oxygen physiology in the population with Down syndrome.<\/p>\n

\u201cThis is another huge breakthrough from our scientists at the Crnic Institute that we hope will lead to additional treatments quickly,\u201d says Michelle Sie Whitten, president & CEO of Fundaci\u00f3n Mundial del S\u00edndrome de Down<\/a>, a partner and an Affiliate organization of the Crnic Institute. \u201cAs a mother of a brilliant 21-year-old with Down syndrome I am eager to understand how to normalize oxygen physiology safely and how that may improve the lives of millions of people with Down syndrome across the world. We are proud that GLOBAL\u2019s advocacy work with Congress and with the National Institutes of Health (NIH) has led to the establishment of the trans-NIH Down syndrome funding project, INCLUDE, that underwrites this and numerous other groundbreaking studies and clinical trials.\u201d<\/p>\n

About the Linda Crnic Institute for Down Syndrome<\/strong><\/p>\n

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org<\/a> or follow us on Facebook and Twitter @CrnicInstitute.<\/p>\n

About the University of Colorado Anschutz Medical Campus<\/strong><\/p>\n

The University of Colorado Anschutz Medical Campus\u00a0is a world-class medical destination at the forefront of transformative science, medicine, education\u00a0and patient care. The campus\u00a0encompasses\u00a0the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent\u00a0hospitals\u00a0–\u00a0UCHealth University of Colorado Hospital<\/a>\u00a0y\u00a0Children’s Hospital Colorado<\/a>\u00a0\u2013\u00a0which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus\u00a0delivers life-changing\u00a0treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants.\u00a0For more information, visit\u00a0www.cuanschutz.edu.<\/a><\/p>\n

Acerca de la Fundaci\u00f3n Global S\u00edndrome de Down<\/strong><\/p>\n

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,500 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 100 Down syndrome organizations worldwide, and is part of a network of Affiliates \u2013 the\u00a0Instituto Crnic para el S\u00edndrome de Down<\/a>El\u00a0Centro Sie para el s\u00edndrome de Down<\/a>, and the\u00a0Centro de Alzheimer y Cognici\u00f3n de la Universidad de Colorado<\/a>\u00a0\u2013 all on the Anschutz Medical Campus.<\/p>\n

Entre las publicaciones m\u00e9dicas de GLOBAL de mayor difusi\u00f3n figuran\u00a0Gu\u00eda global de cuidados m\u00e9dicos para adultos con s\u00edndrome de Down<\/em><\/a>,\u00a0Informaci\u00f3n prenatal y neonatal sobre el s\u00edndrome de Down<\/em><\/a>y la galardonada revista\u00a0S\u00edndrome de Down World TM<\/em><\/a>. GLOBAL also organizes the\u00a0Desfile de moda Be Beautiful Be Yourself<\/em><\/a>la mayor campa\u00f1a mundial de recaudaci\u00f3n de fondos para el s\u00edndrome de Down. Visite\u00a0globaldownsyndrome.org<\/a>\u00a0y s\u00edganos en las redes sociales\u00a0Facebook<\/a>,\u00a0X<\/a>\u00a0y\u00a0Instagram<\/a>.<\/p>\n

###<\/p>","protected":false},"excerpt":{"rendered":"

Denver, Aug. 15, 2024 (GLOBE NEWSWIRE) —\u00a0A groundbreaking new study published in\u00a0Cell Reports\u00a0by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports important differences in oxygen physiology and red blood cell function in individuals with Down syndrome. 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