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Ann Neurol. 2006 Jun;59(6):970-5.

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

Author information

1
Institute of Human Genetics, University of Cologne, Cologne, Germany.

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.

PMID:
16607616
DOI:
10.1002/ana.20836
[Indexed for MEDLINE]
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