Fig. 3: HPS1 deficiency leads to a dysregulated metabolic program. | Mucosal Immunology

Fig. 3: HPS1 deficiency leads to a dysregulated metabolic program.

From: Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

Fig. 3

a Differential expression of HPS-1 and control macrophages. Known IBD-related cytokines are bolded. B Weighted Gene Correlation Network Analysis reveals a module highly associated with the HPS-1 disease trait; ClueGO was performed on the top 200 hub genes of this module. c Heatmap of the genes contributing to the LDL particle receptor catabolic signature. d Gene set enrichment analysis using hallmark pathways reveals a reduction in fatty acid metabolism. e Gene set enrichment analysis highlights decreased oxidative phosphorylation. f Sanger sequencing of HPS1 knockout HAP1 cells and control as a comparison. g Oxygen consumption rate of control and HPS1 knockout cells. Error bars in SEM. 12 replicates from one experiment, representative of two independent experiments. h MitoSOX staining on control and HPS1 knockout cells (n = 6). i Serum-starved HAP1 cells were treated with 2.5 μg/mL LDL-BODIPY for 3 h (n = 7). j HAP1 cells were stimulated with cholesterol for 2 h and stained with BODIPY 493/503 (n = 5). *p < 0.05, **p < 0.01, ****p < 0.0001; Ratio paired t-test on mean fluorescence intensity. Unpaired t-test on OCR log-transformed data. Padj = adjusted p-value; NES normalized enrichment score, R & A rotenone and antimycin A.

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