A simple description of the cause of SMA
Frank, an SMA parent, describes the genetics of SMA.
So, my understanding on how SMA works is that the disease itself is caused by a lack of a protein called SMN and the reason the body is lacking this protein is because there's a deletion of a gene called SMN1. And a certain amount of protein is needed to live. For Maeve to exist, there's a certain amount of protein to exist then just by nature, nature has given SMA patients a backup gene called SMN2. Now you would think that SMN2 is producing the same protein and, you know, that it would compensate for the lack of the SMN1 gene, but it doesn't because the SMN2 gene in itself creates a low functioning protein due to a problem in its genetic makeup. And it produces something like 10% of the protein that would normally be required for a normal individual.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, survival motor neuron, SMN, SMN1, SMN2, motor neuron, muscular, disease, splicing, mutation, protein, spinal cord, neurodegenerative, exon 7
- ID: 16911
- Source: DNALC.SMA
- Download: MPEG 4 Video
Dr. Sumner explains what causes SMA.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
An animation shows alternate splicing of the SMN2 gene.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. Krainer explains the connection between SMA and RNA splicing.
Dr. Sumner explains copy number variation of the SMN2 gene may influence disease severity.
Dr. Sumner provides an overview of targets for SMA therapies.
Dr. Sumner talks about gene therapy for SMA.