Dr Ana Cristina Calvo - Peripheral RNA Biomarkers in Amyotrophic Lateral Sclerosis
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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 field of research. Previous studies in our research group are focused on the analysis of the transcriptional expression of mRNA of target genes related to calcium and glucose metabolism, oxidative stress, inflammation (pro- and anti-inflammatory cytokines, NLRP3 inflammasome), neuromuscular junction dismantlement and muscle damage and reinnervation in serial muscle biopsies and blood samples of transgenic SOD1G93A mice. Among all these mRNA targets, we have validated the transcriptional collagen type XIX (COL19A1) levels in muscle and blood samples of sporadic and familial ALS patients in a multicentre study, suggesting a compensatory effect of this collagen to ameliorate the disease progression under neurodegenerative conditions specific to ALS. In order to improve the predictive capacity of this potential prognostic biomarker, we are recently investigating circular RNA targets that could be closely related to this collagen and to the neurodegenerative progression and longevity in transgenic SOD1G93A mice. These findings could provide not only a better understanding of the disease but also a panel of biomarkers that could be easily validated in ALS patients.
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