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Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein

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Abstract

Spinal muscular atrophy (SMA) is a devastating and often fatal neurodegenerative disease that affects spinal motor neurons and leads to progressive muscle wasting and paralysis. The survival of motor neuron (SMN) gene is mutated or deleted in most forms of SMA, which results in a critical reduction in SMN protein. Motor neurons appear particularly vulnerable to reduced SMN protein levels. Therefore, understanding the functional role of SMN in protecting motor neurons from degeneration is an essential prerequisite for the design of effective therapies for SMA. To this end, there is increasing evidence indicating a key regulatory antiapoptotic role for the SMN protein that is important in motor neuron survival. The aim of this review is to highlight key findings that support an antiapoptotic role for SMN in modulating cell survival and raise possibilities for new therapeutic approaches.

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Acknowledgments

These studies were supported by the Neuromuscular Foundation and Muscular Dystrophy Association of Western Australia.

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Authors and Affiliations

  1. Centre for Neuromuscular and Neurological Disorders, University of Western Australia and Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia

    Ryan S. Anderton, Bruno P. Meloni, Frank L. Mastaglia & Sherif Boulos

  2. Department of Neurosurgery, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia

    Bruno P. Meloni

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  1. Ryan S. Anderton
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  2. Bruno P. Meloni
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  3. Frank L. Mastaglia
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  4. Sherif Boulos
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Correspondence to Ryan S. Anderton.

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Anderton, R.S., Meloni, B.P., Mastaglia, F.L. et al. Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein. Mol Neurobiol 47, 821–832 (2013). https://doi.org/10.1007/s12035-013-8399-5

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  • DOI: https://doi.org/10.1007/s12035-013-8399-5

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