"Spinal muscular atrophy and the antiapoptotic role of Survival of Motor Neuron (SMN) protein" by Dr Ryan Anderton

Article

Spinal muscular atrophy and the antiapoptotic role of Survival of Motor Neuron (SMN) protein

Molecular Neurobiology (2013)

Dr Ryan Anderton, The University of Notre Dame Australia
Bruno Meloni, The University of Western Australia
Francis L Mastaglia, University of Western Australia
Sherif Boulos, The University of Western Australia

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 reviewis to highlight key findings that
support an antiapoptotic role for SMN in modulating cell
survival and raise possibilities for new therapeutic approaches.

Disciplines

Medicine and Health Sciences

Publication Date

2013

DOI

10.1007/s12035-013-8399-5

Citation Information

Anderton, R., Meloni, B., Mastaglia, F., et al. (2013). Spinal muscular atrophy and the antiapoptotic role of Survival of Motor Neuron (SMN) protein. Molecular Neurobiology, 47(2), 821-832. DOI: 10.1007/s12035-013-8399-5