Journal
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
Volume 19, Issue 9, Pages 2058-2066Publisher
WILEY
DOI: 10.1111/jcmm.12606
Keywords
spinal muscular atrophy with respiratory distress-SMARD1; motor neuron; therapeutic strategies
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Funding
- Associazione Amici del Centro Dino Ferrari
- Ministry of Health [GR-2009-1483560, GR-2010-2309463, FIRB RBFR08RV86]
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Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin -binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (nmd) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. The significant advancement in understanding of both SMARD1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre-clinical therapeutic strategies in humans.
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