Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.

ABSTRACT:

Objective

Recent advances in therapeutics have improved prognosis for severely affected spinal muscular atrophy (SMA) type 1 and 2 patients, while the best method of treatment for SMA type 3 patients with later onset of disease is unknown. To better characterize the SMA type 3 population and provide potential therapeutic targets, we aimed to understand gene expression differences in whole blood of SMA type 3 patients (n = 31) and age- and gender-matched controls (n = 34).

Methods

We performed the first large-scale whole blood transcriptomic screen with L1000, a rapid, high-throughput gene expression profiling technology that uses 978 landmark genes to capture a representation of the transcriptome and predict expression of 9196 additional genes.

Results

The primary dow

SUBMITTER: Siranosian JJ 

PROVIDER: S-EPMC7359125 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature