Cut and Paste: Treating Spinal Muscular Atrophy with Nusinersen

Cut and Paste: Treating Spinal Muscular Atrophy with Nusinersen


while RNA editing is critical for generating the hundreds of thousands of proteins that keep us alive slicing errors can lead to devastating health problems one example is an often fatal disease called spinal muscular atrophy or SMA it’s the number one genetic cause of infant death SMA is caused by too little of a vital protein called survival of motor neuron or SMN in the spinal cords motor neurons too little of this protein causes the motor neuron to die and the muscles that control to waste away the smn1 gene which produces the SMN protein is missing or damaged beyond repair in sm a patient humans have a second SMN producing gene called smn2 but this gene is a poor backup because it produces very little functional SMN protein this efficiency stems from a mistake during RNA editing remember that’s the process of forming a coherent are any message that removing the gibberish letters or in trunk but what is this mistake and how does it cause SMA let’s say the SMN gene generates are any copies made up of introns and exons like this normal RNA splicing will delete the intron the gibberish letters in blue and leave only the exons the red letters generating the following message draw a big house on the corner of the wide Street in SMA it turns out that during RNA splicing the 7x on of smn2 is skipped by the machinery that edits RNA skipping of exon 7 generates a faulty message draw a big house on the of the wide Street just like removing word number seven in the sentence leads to a statement that makes no sense removing exon 7 in the RNA results in a defective protein remember that SMA patients have to rely solely on the smn2 gene to produce the survival of motor neuron protein but due to exon skipping not enough usable protein is made to support normal muscle development infants born with the most severe form of SMA often don’t make it to the second birthday but researchers have been studying how to fix this placing problem one solution is called knew sooner ssin it enables SMA patients to make more SMN protein but how new Sanderson is a short sequence of RNA that binds just after exon 7 in the end edited RNA message this tiny piece of RNA prevents exon 7 from being skipped it is called an antisense oligonucleotides or a sox10 seven is now included in the edited already message which in turn generates full-length functional sm and protein by preventing exon 7 from being skipped new Sanderson reverses symptoms and SMA patients

6 Replies to “Cut and Paste: Treating Spinal Muscular Atrophy with Nusinersen”

  1. Hi! I was just wondering would the medicine give older kids their strength back? I saw that you mentioned that if a child starts taking the drug from birth, they could have a normal SMN protein, but would it be able to do the same thing for someone who is older?

  2. our child suffers from SMA type 1 disease, please help the child to cure: There is no cure in Armenia: the unilateral option is to get out of the country

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