Down Syndrome Linked to Breathing Disruption and Increased Anemia

Rockville, Md. (December 5, 2023)—A new mouse study published in the journal Function links Down syndrome (DS) with medical conditions such as anemia and periods of breathing difficulties called apneas.

In a new study, researchers exposed mice to higher levels of carbon dioxide, which usually increases breathing rate and depth. However, a mouse model of DS had a reduced response to breathing higher levels of carbon dioxide and also had lower-than-normal oxygen levels. Blood samples revealed the DS mice had anemia, resulting in a weakened ability to carry oxygen in the body. In a large human study, the research team, from the University of Health Sciences and Pharmacy in St. Louis, also determined that anemia is more common in DS. Finally, researchers performed studies on the diaphragm, the main breathing muscle in the body. They observed the muscles functioning normally and concluded the neural, not muscular components, contribute to breathing disturbances in DS.

“Knowing that neural, not muscular deficits contribute to calm breathing in DS is important for potential therapies,” said Lara DeRuisseau, PhD, associate professor and lead author of the study. “Since 40–50% of people with DS have sleep apnea, the reduced response to carbon dioxide could also be important to understand why people with DS stop breathing during sleep.”

Read the full article, “Breathing and oxygen carrying capacity in Ts65Dn and Down syndrome,” published ahead of print in Function. Contact APS Media Relations or call 301.634.7314 to schedule an interview with a member of the research team.