Campus Units

Biomedical Sciences

Document Type

Article

Publication Version

Accepted Manuscript

Publication Date

12-2013

Journal or Book Title

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Volume

1832

Issue

12

First Page

2180

Last Page

2190

DOI

10.1016/j.bbadis.2013.08.005

Abstract

Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2. Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the loss of SMN1 results in spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. SMA affects 1 in ~ 6000 live births, a frequency much higher than in several genetic diseases. The major known defect of SMN2 is the predominant exon 7 skipping that leads to production of a truncated protein (SMNΔ7), which is unstable. Therefore, SMA has emerged as a model genetic disorder in which almost the entire disease population could be linked to the aberrant splicing of a single exon (i.e. SMN2 exon 7). Diverse treatment strategies aimed at improving the function of SMN2 have been envisioned. These strategies include, but are not limited to, manipulation of transcription, correction of aberrant splicing and stabilization of mRNA, SMN and SMNΔ7. This review summarizes up to date progress and promise of various in vivo studies reported for the treatment of SMA.

Comments

This is a manuscript of an article published as Seo, Joonbae, Matthew D. Howell, Natalia N. Singh, and Ravindra N. Singh. "Spinal muscular atrophy: an update on therapeutic progress." Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832, no. 12 (2013): 2180-2190. DOI: 10.1016/j.bbadis.2013.08.005. Posted with permission.

Creative Commons License

Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Copyright Owner

Elsevier B.V.

Language

en

File Format

application/pdf

Published Version

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