Molecular mechanisms of neurodegeneration in spinal muscular atrophy

Document Type

Article

Abstract

© the authors, publisher and licensee Llibertas Aacademica Llimited. Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1) gene shifts the load of expression of SMN protein to the SMN2 gene that produces low levels of full-length SMN protein because of alternative splicing, which are sufficient for embryonic development and survival but result in SMA. The molecular mechanisms of the (a) regulation of SMN gene expression and (b) degeneration of motor neurons caused by low levels of SMN are unclear. However, some progress has been made in recent years that have provided new insights into understanding of the cellular and molecular basis of SMA pathogenesis. In this review, we have briefly summarized recent advances toward understanding of the molecular mechanisms of regulation of SMN levels and signaling mechanisms that mediate neurodegeneration in SMA.

Keywords

JNK, MND, ROCK, SMA, SMN, ZPR1

Publication Date

1-1-2016

Publication Title

Journal of Experimental Neuroscience

E-ISSN

11790695

Volume

10

Issue

1

First Page

39

Last Page

49

Digital Object Identifier (DOI)

10.4137/JEn.s33122

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