HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) All Versions of this Article: jmg.2007.051177v1 45/1/29    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Angelozzi, C Articles by Brahe, C Search for Related Content PubMed PubMed Citation Articles by Angelozzi, C Articles by Brahe, C

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

Istituto di Genetica Medica, Universitè Cattolica S Cuore, Rome, Italy

Correspondence to:
Dr C Brahe, Istituto di Genetica Medica, Universitè Cattolica, Largo Francesco Vito, 1, I-00168 Rome, Italy; cbrahe{at}rm.unicatt.it]

ABSTRACT
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by homozygous absence of the survival motor neuron gene (SMN1). All patients have at least one, usually two to four copies of the related SMN2 gene which, however, produce insufficient levels of functional SMN protein due to the exclusion of exon 7 in the majority of SMN2 transcripts. Here, we show that salbutamol, a β2-adrenoceptor agonist, determines a rapid and significant increase in SMN2-full length mRNA and SMN protein in SMA fibroblasts, predominantly by promoting exon 7 inclusion in SMN2 transcripts. These data, together with previous clinical findings, provide a strong rationale to investigate further the clinical efficacy of salbutamol in SMA patients.