MiR-218 as a candidate of biomarker for early diagnosis of ALS. (P1.333)

Objective: To characterize the expression of miR-218 in patient CNS tissue samples, CSF, and serum in order to determine feasibility of use as a biomarker for ALS diagnosis. Background: Current literature demonstrates that miR-218 plays a crucial role in motor neuron differentiation and homeostasis by regulating the expression of ~300 target genes in motor neurons important for preventing neuromuscular failure and neurodegeneration. miR-218 is downregulated in post mortem spinal cord tissue from both familial and sporadic ALS patients, indicating a potential common mechanism in the course of disease. Interestingly, the levels of miR-218 are upregulated in CSF and plasma or ALS rodent models 1–3 . Taken together these results implicate that miR-218 may serve as a candidate biomarker for early detection of ALS. Design/Methods: Using RT-qPCR via NGS, TaqMan assays and FISH techniques we will examine expression levels of miR-218 in patient serum/plasma samples, CSF and CNS tissue. Using these methodologies, we aim to identify a clinic-friendly approach to detect miR-218 levels for potential use as a disease biomarker. The UCSD ALS biorepositories has blood and CNS samples from patients with well-characterized ALS and healthy controls, and the NEALS Sample Repository has CSF and corresponding blood samples to total u003e240 patients. Results: Our preliminary data have validated the ability to quantify miR-218 levels in serum samples. We are in the process of comparing levels of expression between patients and healthy controls. Conclusions: Due to the specificity of miR-218 expression in motor neurons and its modulation with disease, our studies will attempt to validate the potential of miR-218 to serve as a biomarker for early disease detection. Disclosure: Dr. Diaz Garcia has nothing to disclose. Dr. Costaguta has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. Rodriguez has nothing to disclose. Dr. Pfaff has nothing to disclose. Dr. Hornstein has nothing to disclose. Dr. Ravits has nothing to disclose.