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The Connection Between Spinal Muscular Atrophy and RNA splicing

Researcher Dr. Adrian Krainer explains the connection between SMA and RNA splicing Originally created for Learn About Spinal Muscular Atrophy ( http://www.learnaboutsma.org/ ) TRANSCRIPT: So the connection between splicing and SMA is actually twofold. You know, one has to do with the function of the SMN protein itself or one of its functions, which is to assemble components that are critical for splicing in general. And the second connection has to do with splicing of the SMN2 gene itself. Because it is alternatively spliced in a way that gives a reduced amount of functional SMN protein, if it's possible to target that gene and change its splicing to give more full length SMN protein that would make it a more functional gene.
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