66
Views
4
CrossRef citations to date
0
Altmetric
Reviews

Drug discovery for spinal muscular atrophy

, &
Pages 437-451 | Published online: 14 May 2007
 

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder with an early lethal outcome for > 50% of all patients. Today, there is no therapy for SMA available. SMA patients fail to produce the functional survival motor neuron 1 (SMN1) protein, but have variable numbers of SMN2 copy genes that have a major effect on the disease severity. A quite significant number of drugs have been identified, so far, which are able to activate the transcription, restore the correct SMN2 splicing or stabilize the SMN2 protein. Some of these drugs have been shown to be beneficial and to increase SMN2 protein levels in SMA patients. The clear proof given by placebo-controlled clinical trials is still pending. Nevertheless, SMA may be the first inherited disorder in which the activation/splicing correction of a copy of the gene may cure or ameliorate the disease.

Acknowledgements

The authors apologize for omitted references. The author gratefully acknowledges the support from the Deutsche Forschungsgemeinschaft, Families of SMA, Initiative ‘Forschung und Therapie für SMA’, the Center for Molecular Medicine Cologne and Köln-Fortune.

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 99.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,340.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.