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Investigation of a recombinant SMN protein delivery system to treat spinal muscular atrophy
Journal article   Open access   Peer reviewed

Investigation of a recombinant SMN protein delivery system to treat spinal muscular atrophy

R. Anderton, B. Meloni, F. Mastaglia and S. Boulos
Translational Neuroscience, Vol.5(1), pp.8-16
2014
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Abstract

Spinal muscular atrophy (SMA), the most common genetic cause of infant death, is a neurodegenerative disorder affecting motor neurons. SMA results from a loss in full-length survival of motor neuron (SMN) protein due to deletions/mutations in the SMN1 gene. In this study, we assessed the ability of cell-penetrating peptides (CPP) to deliver recombinant SMN protein to cultured neurons as a prelude for a potential therapeutic to treat SMA. Firstly, we confirmed that E. coli produced recombinant GFP protein fused to TAT (YGRKKRRQRRR; TAT-GFP) transduced rat cortical neurons in a concentration dependent manner. However, due to low yields of recombinant TATSMN protein obtainable from E. coli, we investigated the potential of a modified TAT (TATκ: YARKAARQARA) or R9 (RRRRRRRRR) peptide downstream of the fibronectin (FIB) secretory signal peptide to generate recombinant CPP-fused SMN protein. While U251 cells transduced with an adenoviral vector expressing CMV-FIB-TATκ-SMN secreted recombinant TATκ-SMN protein, we did not detect TATκ-SMN protein transduction of cortical neurons. Further, purified TATκ-SMN was unable to transduce SH-SY5Y cells, nor block apoptosis following LY294002 treatment of these cells. Our findings indicate that TATκ is not a suitable CPP to deliver SMN protein to neurons. Nonetheless, we have developed a novel method to generate full-length recombinant SMN protein using a mammalian expression system, which can be used to explore the application of other CPPs to deliver SMN protein as a treatment for SMA.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.255 Musculoskeletal Disorders
1.255.2204 Spinal Muscular Atrophy
Web Of Science research areas
Neurosciences
ESI research areas
Neuroscience & Behavior
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