N.P.2 03 Correlation between SMN2 copy number variations in expression of SMN2 mRNA and clinical outcome in SMA patients treated with phenylbutyrate and valproic acid

Abstract

In humans, the survival motor neuron gene (SMN) is duplicated with telomeric copy (SMN1) and centromeric copy (SMN2). The differences between these genes result in alterations in their RNA expression patterns. SMN2 may occur in more than two copies per diploid genome. Studies of correlation between disease severity and the number of SMN2 copies have shown an inverse relationship. It was found, that some drugs can modify the pattern of SMN2 splicing in SMA patients towards increase in full-length SMN2 mRNA and amount of SMN protein.