Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy.

ABSTRACT:

Background

Spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons. SMN has a role in neurons but its deficiency may have a direct effect on muscle tissue.

Methods

We applied microarray and quantitative real-time PCR to study at transcriptional level the effects of a defective SMN gene in skeletal muscles affected by the two forms of SMA: the most severe type I and the mild type III.

Results

The two forms of SMA generated distinct expression signatures: the SMA III muscle transcriptome is close to that found under normal conditions, whereas in SMA I there is strong alteration of gene expression. Genes

SUBMITTER: Millino C 

PROVIDER: S-EPMC2676312 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature