Characterization of red blood cell metabolism in Down syndrome

Heatmap showing correlations between metabolites in trisomy 21 red blood cells (blue to red indicates correlations of -1 to 1, respectively).

Red blood cells are the most common cell type in the body, and their contents mirrors systemic metabolic processes. Here, Rachel Culp-Hill, MS, and Angelo D’Alessandro, PhD, provide the first mass spectrometry–based relative and absolute quantitative metabolomic description of red blood cells from people with Down syndrome. Their results show that red blood cell metabolism is widely deregulated by trisomy 21, including significant intracellular accumulation of lactate, many amino acids, purine catabolites, glutathione metabolites, carboxylic acids, bile acids, and acyl-conjugated carnitines. These changes may underlie some of the well-established comorbidities in Down syndrome, including autoimmune and inflammatory conditions, and cognitive impairment in Alzheimer’s disease.

Check out the full publication on Pubmed.

Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging. Culp-Hill R, Zheng C, Reisz JA, Smith K, Rachubinski A,  Nemkov T, Butcher E, Granrath R, Hansen KC, Espinosa JM, D'Alessandro A. Blood Advances. 2017 Dec 21;1(27):2776-2780. PMID: 29296929.