Cause of SMA
Dr. Charlotte Sumner explains the cause of SMA and the two genes, SMN1 and SMN2.
The genetic cause of this disease is a mutation in a gene called SMN and SMN stands for survival motor neuron and in particular, it's caused by a mutation in the SMN1 gene. But all patients with SMA retain a second version of the gene, what we call SMN2. Unfortunately, SMN2 can't compensate fully for the loss of SMN1. It makes less of the SMN protein that's required in motor neurons and as a result because of this reduction in the expression of the SMN protein, motor neurons degenerate in this disease. So that's the underlying cause of SMA, that is a loss or mutation of the SMN1 gene, a retention of this SMN2 gene that makes inadequate amounts of the SMN protein. And because of that reduction in SMN protein, SMA results in the loss of motor neurons and severe, severe muscle weakness.
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- ID: 16910
- Source: DNALC.SMA
- Download: MPEG 4 Video
Frank, an SMA parent, describes the genetics of SMA.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Dr. Sumner provides an overview of targets for SMA therapies.
Dr. Sumner explains copy number variation of the SMN2 gene may influence disease severity.
Dr. Sumner talks about gene therapy for SMA.
An animation shows alternate splicing of the SMN2 gene.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
Dr. Sumner describes small molecule therapies for SMA.