Exploratory experiment designed to discover new patterns targeting TARDBP in Human ALS patient spinal cord tissue. Primary outcome: Elevated cGAMP levels as biomarker
Post-mortem analysis of spinal cord samples from ALS patients to measure levels of cyclic GMP-AMP (cGAMP), the specific metabolite produced by cGAS enzyme activation. This study aimed to validate the clinical relevance of the cGAS/STING pathway in human ALS pathology by demonstrating elevated cGAMP levels as a potential biomarker of mitochondrial DNA release and cGAS/STING activation. The analysis provided crucial translational evidence connecting the mechanistic findings from cellular and animal models to human disease pathology.
Post-mortem spinal cord tissue collection, cGAMP quantification assays, comparison between ALS patients and controls, correlation with TDP-43 pathology
ALS patients should show significantly elevated cGAMP levels compared to controls, indicating active cGAS/STING signaling
Statistically significant elevation of cGAMP levels in ALS patient samples versus controls
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