Researchers at the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome (Crnic Institute) have uncovered compelling evidence that individuals with Down syndrome experience significant alterations in liver metabolism, including elevated levels of bile acids in the bloodstream and other biomarkers of liver dysfunction. The study, published in Cell Reports, suggests that these changes may be modifiable through diet, providing hope for improved health outcomes.

Results Identify Unique Liver Dysfunction in Down Syndrome

The liver is a dynamic and vital organ that removes toxins from blood, produces bile for fat digestion, metabolizes nutrients, and makes proteins for blood clotting, making it essential for detoxification, metabolism and immunity. Using multiomic analysis of plasma samples from more than 400 research participants in the Human Trisome Project, a large cohort study of the population with Down syndrome run by the Crnic Institute, the team identified consistent elevations in bile acids across the lifespan, independent of body mass index (BMI) or co-occurring conditions. Bile acids are molecules made from cholesterol in the liver that are crucial for digesting fats and fat-soluble vitamins in the small intestine, while also acting as signaling molecules that can regulate metabolism and inflammation.

A chain of immune reactions in the gut—driven by a key signaling protein and a surge of white blood cells from the bone marrow—may help explain why people with inflammatory bowel disease (IBD) have a higher risk of colorectal cancer, according to a preclinical study by Weill Cornell Medicine investigators. The findings point to new possibilities for diagnosis, monitoring and treatment.

The International Society for Stem Cell Research (ISSCR) today announced the upcoming release of “Charting the Translational Pathway: ISSCR Best Practices for the Development of Pluripotent Stem Cell (PSC)-Derived Therapies,” a new paper highlighting some of the most critical aspects of the ISSCR’s breakthrough interactive resource designed to transform how PSC-derived therapies are developed, evaluated, and advanced toward clinical and commercial success. The paper was published today in Stem Cell Reports.