9^th World Biomarkers Congress

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of unknown origin that causes progressive muscle paralysis and motor neuron death. The need of reliable biomarkers of ALS that can be accurately monitoring along disease progression is an increasing fi eld of research. In this sense, our main objective is to identify molecular biomarkers as key elements of the induced neurodegeneration in ALS. Previous studies in our research workgroup analysed the transcriptional expression of a group of genes, whose expression was found up and down-regulated signifi cantly in a preliminary microarray study and in muscle biopsy samples from transgenic SOD1G93A mice, the best characterized murine model for the disease. In this study we identifi ed fi ve genes, Mef2c, Gsr, Col19a1, Calm1 and Snx10 as potential genetic biomarkers of longevity in this animal model. Next, we translated this study to ALS patient’s samples to validate the potential nature of these biomarkers. Skeletal muscle biopsies and blood samples from sporadic and familial ALS patients were analyzed by real time PCR and Western blot to test the expression levels of fi ft een genes and fourteen proteins. ROC curves, multinomial regression and timedependent Cox regression analysis were performed. COL19A1 gene and protein levels were identifi ed as potential prognostic candidates in skeletal muscle samples from ALS patients. In addition, the same gene improved prognosis in blood samples from sporadic ALS patients. Th ese fi ndings provide an important fi rst step towards the accurate prediction of potential biomarkers in ALS be the initial springboard to new clinical trials and promising therapeutic strategies.