Summary of project PR002788
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002788. The data can be accessed directly via it's Project DOI: 10.21228/M88V81 This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR002788 |
| Project DOI: | doi: 10.21228/M88V81 |
| Project Title: | Altered hepatic metabolism manifests in levels of circulating bile acids in Down Syndrome |
| Project Summary: | Trisomy 21 (T21) gives rise to Down syndrome (DS), the most commonly occurring chromosomal abnormality in humans. T21 affects nearly every organ and tissue system in the body, predisposing individuals with DS to congenital heart defects, autoimmunity, and Alzheimer’s disease, among other co-occurring conditions. Here, using multi-omic analysis of plasma from more than 400 people, we report broad metabolic changes in the population with DS typified by increased bile acid levels and protein signatures of liver dysfunction. In a mouse model of DS, we demonstrate conservation of perturbed bile acid metabolism accompanied by liver pathology. Bulk RNA-sequencing revealed widespread impacts of the Dp16 model on hepatic metabolism and inflammation, while single-cell transcriptomics highlighted cell types associated with these observations. Modulation of dietary fat profoundly impacted gene expression, bile acids, and liver pathology. Overall, these data represent evidence for altered hepatic metabolism in DS that could be modulated by diet. |
| Institute: | University of Colorado Anschutz Medical Campus |
| Laboratory: | Lab of Angelo D'Alessandro in collaboration with labs of Kelly Sullivan and Joaquin Espinosa |
| Last Name: | Haines |
| First Name: | Julie |
| Address: | 12801 E 17th Ave, Room 1303, Aurora, Colorado, 80045, USA |
| Email: | julie.haines@cuanschutz.edu |
| Phone: | 3037243339 |
Summary of all studies in project PR002788
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST004412 | Plasma lipidomics characterization of mouse models of Down syndrome Dp16 and Dp16-2xIfnrs versus WT mice | Mus musculus | University of Colorado Anschutz Medical Campus | MS | 2025-12-05 | 1 | 32 | Uploaded data (6.7G)* |
| ST004413 | Plasma metabolomics characterization of mouse models of Down syndrome Dp16 and Dp16-2xIfnrs versus WT mice | Mus musculus | University of Colorado Anschutz Medical Campus | MS | 2025-12-05 | 1 | 32 | Uploaded data (3.3G)* |
| ST004414 | Plasma metabolomics characterization of the impact of high fat diet on the Down syndrome mouse model Dp16 versus WT mice | Mus musculus | University of Colorado Anschutz Medical Campus | MS | 2025-12-05 | 1 | 46 | Uploaded data (12.4G)* |
