{"id":157333,"date":"2024-08-15T11:13:19","date_gmt":"2024-08-15T17:13:19","guid":{"rendered":"https:\/\/www.globaldownsyndrome.org\/?p=157333"},"modified":"2026-05-20T10:28:43","modified_gmt":"2026-05-20T16:28:43","slug":"groundbreaking-crnic-institute-study-discovers-differences-in-oxygen-physiology-in-people-with-down-syndrome","status":"publish","type":"post","link":"https:\/\/www.globaldownsyndrome.org\/sq\/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) — A groundbreaking studim i ri<\/a> botuar n\u00eb C<\/em>ell Reports<\/em> by researchers from the Instituti Linda Crnic p\u00ebr Sindrom\u00ebn Down<\/a> (Instituti Crnic) n\u00eb Kampusi Mjek\u00ebsor i Universitetit t\u00eb Kolorados Anschutz<\/a> reports important differences in oxygen physiology and red blood cell function in individuals with Down syndrome. The study is part of the ongoing Projekti Human Trisome<\/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.  \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 Fondacioni Global i Sindrom\u00ebs 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

Rreth Institutit Linda Crnic p\u00ebr Sindrom\u00ebn Down<\/strong><\/p>\n

Instituti Linda Crnic p\u00ebr Sindrom\u00ebn Down \u00ebsht\u00eb nj\u00eb nga t\u00eb vetmet qendra k\u00ebrkimore akademike t\u00eb p\u00ebrkushtuara plot\u00ebsisht ndaj p\u00ebrmir\u00ebsimit t\u00eb jet\u00ebs s\u00eb njer\u00ebzve me sindrom\u00ebn Down p\u00ebrmes k\u00ebrkimeve t\u00eb avancuara biomjek\u00ebsore, q\u00eb shtrihen nga shkenca baz\u00eb deri tek hetimet p\u00ebrkthimore dhe klinike. I themeluar p\u00ebrmes mb\u00ebshtetjes bujare dhe partneritetit t\u00eb Fondacionit Global t\u00eb Sindrom\u00ebs Down, Fondacionit Anna dhe John J. Sie dhe Universitetit t\u00eb Kolorados, Instituti Crnic mb\u00ebshtet nj\u00eb program t\u00eb lul\u00ebzuar k\u00ebrkimor p\u00ebr sindrom\u00ebn Down q\u00eb p\u00ebrfshin mbi 50 ekipe k\u00ebrkimore n\u00eb kat\u00ebr kampuse n\u00eb Kolorado. Gama e p\u00ebrparme. P\u00ebr t\u00eb m\u00ebsuar m\u00eb shum\u00eb, vizitoni www.crnicinstitute.org<\/a> ose na ndiqni n\u00eb Facebook dhe Twitter @CrnicInstitute.<\/p>\n

Rreth Kampusit Mjek\u00ebsor t\u00eb Universitetit t\u00eb Kolorados Anschutz<\/strong><\/p>\n

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Spitali i Kolorados<\/a> dhe Spitali i F\u00ebmij\u00ebve n\u00eb Kolorado<\/a> \u2013 which see more than 2 million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by $705 million in research grants. For more information, visit www.cuanschutz.edu.<\/a><\/p>\n

Rreth Fondacionit Global t\u00eb Sindrom\u00ebs Down<\/strong><\/p>\n

Fondacioni Global i Sindrom\u00ebs Down (GLOBAL) \u00ebsht\u00eb organizata m\u00eb e madhe jofitimprur\u00ebse n\u00eb SHBA q\u00eb punon p\u00ebr t\u00eb shp\u00ebtuar jet\u00eb dhe p\u00ebr t\u00eb p\u00ebrmir\u00ebsuar n\u00eb m\u00ebnyr\u00eb dramatike rezultatet sh\u00ebndet\u00ebsore p\u00ebr njer\u00ebzit me sindrom\u00ebn Down. GLOBAL ka dhuruar m\u00eb shum\u00eb se $32 milion p\u00ebr t\u00eb krijuar institutin e par\u00eb t\u00eb k\u00ebrkimit t\u00eb sindrom\u00ebs Down q\u00eb mb\u00ebshtet mbi 400 shkenc\u00ebtar\u00eb dhe mbi 2500 pacient\u00eb me sindrom\u00ebn Down nga 33 shtete dhe 10 vende. Duke punuar ngusht\u00eb me Kongresin dhe Institutin Komb\u00ebtar t\u00eb Sh\u00ebndet\u00ebsis\u00eb, GLOBAL \u00ebsht\u00eb organizata kryesore e avokimit n\u00eb SHBA p\u00ebr k\u00ebrkimin dhe kujdesin p\u00ebr sindrom\u00ebn Down. GLOBAL ka nj\u00eb an\u00ebtar\u00ebsim n\u00eb mbi 100 organizata t\u00eb sindrom\u00ebs Down n\u00eb mbar\u00eb bot\u00ebn, dhe \u00ebsht\u00eb pjes\u00eb e nj\u00eb rrjeti t\u00eb Filialeve - Instituti Crnic p\u00ebr Sindrom\u00ebn Down<\/a>, Qendra Sie p\u00ebr Sindrom\u00ebn Down<\/a>, dhe Universiteti i Kolorados Alzheimer dhe Qendra e Njohjes<\/a> \u2013 t\u00eb gjitha n\u00eb kampusin mjek\u00ebsor t\u00eb Anschutz.<\/p>\n

Publikimet mjek\u00ebsore t\u00eb p\u00ebrhapura gjer\u00ebsisht t\u00eb GLOBAL p\u00ebrfshijn\u00eb Udh\u00ebzimet globale t\u00eb kujdesit mjek\u00ebsor p\u00ebr t\u00eb rriturit me sindrom\u00ebn Down<\/em><\/a>, Informacion p\u00ebr Sindrom\u00ebn Down para lindjes dhe t\u00eb porsalindurit<\/em><\/a>, dhe revist\u00ebn e vler\u00ebsuar me \u00e7mime Down Syndrome World TM<\/em><\/a>. GLOBAL gjithashtu organizon B\u00ebhu i Bukur Behu Vet\u00eb Show Fashion<\/em><\/a>, mbledhja m\u00eb e madhe e fondeve p\u00ebr sindrom\u00ebn Down n\u00eb bot\u00eb. Vizitoni globaldownsyndrome.org<\/a> dhe na ndiqni n\u00eb rrjetet sociale Facebook<\/a>, X<\/a> dhe Instagram<\/a>.<\/p>\n

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

Denver, Aug. 15, 2024 (GLOBE NEWSWIRE) — A groundbreaking new study published in Cell Reports by 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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