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Why Splicing Is So Important in SMA Treatment


Splicing is the process of removing parts of DNA code. This can occur naturally, resulting in mutated genes which can lead to genetic diseases such as spinal muscular atrophy (SMA). The survival motor neuron gene 1 (SMN1) responsible for SMA has been spliced and is missing an important element: Exon 7. If a child inherits a mutated SMN1 gene from both parents then they will develop SMA.

MORE: Correcting splicing error restores SMN in SMA patient cells.

However, the human body also has a duplicate of the SMN1 gene, called SMN2. Splicing therapeutics could convert this SMN2 gene to a healthy SMN1 gene and help improve the outcome of the disease and slow down progression. This is what the recently FDA-approved drug Spinraza does, which is now being used worldwide to treat infants, children and adults with all types of SMA.

To find out more about how splicing affects SMA development and how it can be used as a treatment, the SMA Foundation has an informative online booklet which goes into detail on how it all works.

MORE: Spinraza approved in Europe to treat all SMA types.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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