An article published this week by PLoS Biology outlined promising research being conducted at Cold Spring Harbor Laboratory (CSHL). Researchers say they have effectively corrected an mRNA splicing defect found in spinal muscular atrophy (SMA) patients. The technique is now ready to be tested in mouse models.

“SMA patients who suffer from motor-neuron degeneration may benefit from our ability to correct the mRNA splicing defect that makes their SMN2 genes only partially functional,” suggested CSHL Professor Adrian Krainer, Ph.D.

RNA splicing antisense technology allows researchers to influence the ultimate structure and function of proteins. Proteins are synthesized from instructions coded in the DNA through a multi-step process that includes RNA splicing. Information stored in the DNA of genes is transcribed into immature “pre-messenger RNAs” (pre-mRNAs), pre-mRNAs are then spliced into mature “messenger RNAs” (mRNAs), and finally, mRNAs are translated into proteins. In humans and most other organisms, the splicing process thus ensures proper protein production.

“Targeting the splicing process is a promising strategy for finding new medicines to treat SMA, and possibly other diseases,” said Marcus Rhoades, Ph.D. of the National Institute of General Medical Sciences, which partially supported Krainer’s research. “This work brings us one step closer to that goal.”

CSHL is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering. For more information visit http://www.cshl.edu/

The research is funded by the Spinal Muscular Atrophy Foundation.

For more information, you can read the news release at Medical News Today. Details on the research are available at PLoS Biology.