JOURNAL ARTICLE

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

Lars Brichta, Irmgard Holker, Karsten Haug, Thomas Klockgether, Brunhilde Wirth
Annals of Neurology 2006, 59 (6): 970-5
16607616

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.

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