title: Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein.
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.
authors: Centre for Neuromuscular and Neurological Disorders, University of Western Australia and Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia. 20112159@student.uwa.edu.au
authors: Ryan S
authors: RS
authors: Anderton
authors: Bruno P
authors: BP
authors: Meloni
authors: Frank L
authors: FL
authors: Mastaglia
authors: Sherif
authors: S
authors: Boulos
mesh_terms: D000818:Animals; D051017:Apoptosis Regulatory Proteins / Q000502:physiology*; D002470:Cell Survival / Q000235:genetics / Q000502:physiology; D006801:Humans; D009046:Motor Neurons / Q000378:metabolism / Q000473:pathology*; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000502:physiology*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics / Q000502:physiology
chemical_list: D051017:Apoptosis Regulatory Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein