ArticleScientific reports2026
Transcriptomic and proteomic evidence for noncanonical hydrogen sulfide metabolism and immune dysregulation in Down Syndrome.
Article in Scientific reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Accelerated immune cell aging is well-recognized feature of Down Syndrome (DS), a condition caused by trisomy of human chromosome 21 (Hsa21). DS predisposes individuals to recurrent infections, autoimmunity, low bone mass and leukemia. To investigate potential connections between immune cell dysfunction or disruption in DS, transcriptomic and plasma proteomic datasets from DS and euploid individuals were examined. High DS superoxide dismutase 1 (SOD1) mRNA expression was consistently found and was strongly associated with an increased odds of inflammatory co-occurring conditions such as pharyngitis. Higher SOD1 mRNA expression was also associated with increased resting-memory CD4 + T cells, elevated plasma interleukin-16 levels and interferon-γ protein levels, indicative of pathological pro-inflammatory immune dysregulation. Higher SOD1 mRNA was correlated with increased expression of glutathione and thioredoxin-dependent pathways, both integral to antioxidative responses and the generation of hydrogen sulfide (H
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