Whole blood transcriptome profile identifies motor neurone disease (MND) RNA biomarker signatures

(1) Background: Blood-based biomarkers for motor neuron disease are needed for better di-agnosis, progression prediction, and clinical trial monitoring. We used whole blood-derived total RNA and performed whole transcriptome analysis to compare the gene expression pro-files in (motor neurone disease) MND patients to the control subjects. (2) Methods: We com-pared 42 MND patients to 42 aged and sex-matched healthy controls and described the whole transcriptome profile characteristic for MND. In addition to the formal differential analysis, we performed functional annotation of the genomics data and identified the molecular path-ways that are differentially regulated in MND patients. (3) Results: We identified 12,972 genes differentially expressed in the blood of MND patients compared to age and sex-matched con-trols. Functional genomic annotation identified activation of the pathways related to neuro-degeneration, RNA transcription, RNA splicing and extracellular matrix reorganisation. (4) Conclusions: Blood-based whole transcriptomic analysis can reliably differentiate MND pa-tients from controls and can provide useful information for the clinical management of the disease and clinical trials.