Inflammatory and interferon gene expression signatures in patients with mitochondrial disease

People with mitochondrial disease are susceptible to metabolic decompensation and neurological symptom progression in response to an infection. Increasing evidence suggests that mitochondrial dysfunction may cause chronic inflammation, which may promote hyperresponsiveness to pathogens and neurodegeneration. We collected whole blood and isolated peripheral blood mononuclear cells from mitochondrial disease patients and healthy controls and examined transcriptional changes to identify common gene signatures of immune dysfunction in mitochondrial disease. We performed GSEA analyses and identified a positive enrichment of inflammatory and type I interferon gene sets in mitochondrial disease patients, coincident with a negative enrichment of T cell and B cell gene sets. Gene expression profiling analysis of RNAseq data comparing PBMCs isolated from mitochondrial disease patients and healthy controls. NOTE FROM SUBMITTER: This submission only includes processed data files for reasons of patient privacy. We will be uploading raw data to dbGaP under controlled access at accession number phs003299.