Breakthrough Research Uncovers Oxygen Levels Linked to Down Syndrome

New Study Reveals Oxygen Deficiency in Individuals with Down Syndrome.

Denver, CO – Researchers at the Linda Crnic Institute for Down Syndrome have made a groundbreaking discovery about the unique physiology of individuals with Down syndrome. Their study, published in Cell Reports, found significant differences in oxygen levels and red blood cell function compared to the general population.

The study, part of the Human Trisome Project, analyzed blood samples from hundreds of participants with Down syndrome. The findings indicate that the extra chromosome 21, which causes Down syndrome, creates a condition similar to low oxygen levels. This condition, known as hypoxia, triggers changes in gene expression and red blood cell production.

“These results highlight the critical role of oxygen in the health of people with Down syndrome,” said Dr. Joaquín Espinosa, executive director of the Crnic Institute. “Understanding the causes and consequences of hypoxia could lead to life-changing treatments.”

The researchers observed that individuals with Down syndrome overproduce erythropoietin (EPO), a hormone that stimulates red blood cell production. This response, often seen in high-altitude conditions or after intense exercise, suggests the body is struggling to deliver enough oxygen.

“While we’ve known that red blood cells differ in people with Down syndrome, this study is the first to show why,” said Dr. Micah Donovan, lead author of the study. “It’s like their bodies are constantly adapting to a high-altitude environment.”

The findings were replicated in a mouse model of Down syndrome, confirming the genetic basis of these physiological changes. The researchers believe this discovery opens doors for developing treatments to improve oxygen levels and overall health in individuals with Down syndrome.

“We’re excited to explore potential treatments for obstructive sleep apnea, a common condition linked to low oxygen levels in people with Down syndrome,” said Dr. Matthew Galbraith. “Improving sleep quality could be a significant step forward.”

The Crnic Institute is committed to further research in this area, with the goal of developing effective interventions to enhance the lives of individuals with Down syndrome.

About the Linda Crnic Institute for Down Syndrome: The Linda Crnic Institute for Down Syndrome is dedicated to improving the health and well-being of individuals with Down syndrome through research, education, and clinical care.