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
16911. A simple description of the cause of SMA
Frank, an SMA parent, describes the genetics of SMA.
16948. Alternative RNA Splicing Therapy for Spinal Muscular Atrophy
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
16909. Introduction to SMA
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
16929. Genes Involved with SMA
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
16946. An Overview of Future Therapies for SMA
Dr. Sumner provides an overview of targets for SMA therapies.
16934. Gene Copy Number Variation in SMA
Dr. Sumner explains copy number variation of the SMN2 gene may influence disease severity.
16953. Gene Therapy for SMA
Dr. Sumner talks about gene therapy for SMA.
16941. 2D Animation of Alternative RNA Splicing
An animation shows alternate splicing of the SMN2 gene.
16950. 2D Animation of Antisense Oligonucleotide Therapy for SMA
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
16947. Small Molecule Therapy for SMA
Dr. Sumner describes small molecule therapies for SMA.