Muscular miRNome and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular conditions, caused by defect of the SMN1 gene and characterized by muscle atrophy due to the degeneration of motor neurons in the spinal cord. However, several experimental data indicate that skeletal muscle is not an "innocent spectator" in determining the disease. In this project, we propose to compare samples of skeletal muscle from SMA patients and controls by means of an outstanding technology, which allows quantifying the totality of gene products, the so-called "transcripts". Once identified specific transcripts which help to differentiate patients and controls, we will evaluate whether these molecules can be quantified also in sample of blood and serum, by recruiting 60 patients affected from SMA I-III and a similar number of age-matched controls. Molecular data will be related with the clinical function of patients, evaluated by functional motor scales, including the Hammersmith functional motor scale. The objective of this project is to identify novel biomarkers, molecules that can be objectively evaluated in patients, and that are related to the severity of the disease. This aspect is critical in SMA, but also in other conditions, since it could permit to measure an objective parameter which is correlated with the clinical function of patients, especially in relation with forthcoming treatments for SMA.