Learning More About the Faulty Gene in SMA

by Wendy Henderson | October 17, 2017

https://www.youtube.com/watch?v=Fp7MQlZGpKI

Approximately one in 10,000 newborns is affected by spinal muscular atrophy (SMA), a condition that results in muscle deterioration and impaired mobility.

MORE: Eight notable people who have spinal muscular atrophy

In this Roche video shared in August 2014, computer-generated graphics explain the relevance of motor neuron cells and survival motor neuron proteins (SMN proteins) in spinal muscular atrophy, showing what happens when the SMN2 gene is defective.

The video includes encouraging research by Roche, in partnership with PTC Therapeutics and the SMA Foundation, that is aimed at repairing the defective SMN2 gene in laboratory animals.

MORE: Long-term exercise was found to benefit mice models with spinal muscular atrophy (SMA)

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About the Author

Wendy Henderson Wendy is a proven blogger and social media manager who has helped to build online communities for businesses and organizations. She currently heads the website’s social outreach online through social media platforms such as Facebook, Twitter, and Pinterest.