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Mutant protein in muscle linked to neuromuscular disorder
Date:4/16/2014

e of Cell Reports, La Spada and colleagues describe a potential treatment for SBMA. Currently, there is none.

The scientists developed antisense oligonucleotides sequences of synthesized genetic material that suppressed androgen receptor (AR) gene expression in peripheral tissues, but not in the central nervous system. Mutations in the AR gene are the cause of SBMA, a discovery that La Spada made more than 20 years ago while a MD-PhD student.

La Spada said that antisense therapy helped mice modeling SBMA to recover lost muscle weight and strength and extended survival.

"The main points of these papers is that we have identified both a genetic cure and a drug cure for SBMA at least in mice. The goal now is to further develop and refine these ideas so that we can ultimately test them in people," La Spada said.


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Contact: Scott LaFee
slafee@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert  

Page: 1 2

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