In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
✍ Scribed by Lars Brichta; Irmgard Holker; Karsten Haug; Thomas Klockgether; Brunhilde Wirth
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 279 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
Objective
Spinal muscular atrophy results from loss of the survival motor neuron 1 (SMN1) gene and malfunction of the remaining SMN2. We investigated whether valproic acid can elevate human SMN expression in vivo.
Methods
Blood was collected from 10 spinal muscular atrophy carriers and 20 spinal muscular atrophy patients treated with valproic acid.
Results
Seven of 10 carriers demonstrated increased SMN messenger RNA and protein levels. SMN2 messenger RNA levels were elevated in 7 patients and unchanged or decreased in 13 patients.
Interpretation
We provide first proof of the in vivo activation of a causative gene by valproic acid in an inherited disease and discuss strategies of monitoring drug response in patients.