Inflammatory and interferon gene expression signatures in patients with mitochondrial disease.

ABSTRACT:

Background

People with mitochondrial disease (MtD) 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 hyper-responsiveness to pathogens and neurodegeneration. We sought to examine transcriptional changes between MtD patients and healthy controls to identify common gene signatures of immune dysregulation in MtD.

Methods

We collected whole blood from a cohort of MtD patients and healthy controls and performed RNAseq to examine transcriptomic differences. We performed GSEA analyses to compare our findings against existing studies to identify commonly dysregulated pathways.

Results

Gene sets involved in in

SUBMITTER: Warren EB 

PROVIDER: S-EPMC10199642 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature