Expression of Muscle-Specific MiRNA 206 in the Progression of Disease in a Murine SMA Model

• DOI: 10.1371/journal.pone.0128560
• Publication Date: 2015-06-02T00:43:45Z
• Authors: Valeria Valsecchi; Marina Boido; Elena De Amicis; Antonio Piras; Alessandro Vercelli
• Keywords: Muscle Atrophy

Spinal muscular atrophy (SMA) is a severe neuromuscular disease, the most common in infancy, and third one among young people under 18 years. The major pathological landmark of SMA selective degeneration lower motor neurons, resulting progressive skeletal muscle denervation, atrophy, paralysis. Recently, it has been shown that specific or general changes activity ribonucleoprotein containing micro RNAs (miRNAs) play role development SMA. Additionally miRNA-206 to be required for efficient regeneration synapses after acute nerve injury an ALS mouse model. Therefore, we correlated morphology architecture junctions (NMJs) quadriceps, affected early stage with expression levels model intermediate (SMAII), frequently used experimental Our results showed decrease percentage type II fibers, increase atrophic fibers remarkable accumulation neurofilament (NF) pre-synaptic terminal NMJs quadriceps SMAII mice. Furthermore, molecular investigation direct link between miRNA-206-HDAC4-FGFBP1, particular, strong up-regulation this pathway late phase disease. We propose activated as survival endogenous mechanism, although not sufficient rescue integrity neurons. speculate modulation might delay neurodegenerative could innovative, still relatively unexplored, therapeutic target