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

被引：67

作者：

Angelozzi, C. ^{[1
]}

Borgo, F. ^{[1
]}

Tiziano, F. D. ^{[1
]}

Martella, A. ^{[1
]}

Neri, G. ^{[1
]}

Brahe, C. ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 01期

关键词：

D O I：

10.1136/jmg.2007.051177

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 beta 2-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.

引用

页码：29 / 31

页数：3

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