1d. To increase the amount of SMN protein produced by the SMN2 gene
Modulation of translation
|Aim||This approach focuses on increasing the length of the SMN delta 7 protein. The strategy is to avoid the stop of the transcript and protein present in exon 8, promoting a stop-codon read-through.|
|Background||DNA of patients (SMN2 gene) is transcribed to RNA (SMN delta 7 transcript) and translated to protein (SMN delta 7 protein). The SMN delta 7 protein is shorter and less stable than a complete SMN protein.|
In some circumstances, the addition of aminoacids that are not usually present in the protein may be useful to stabilize and increase the functionality of a given protein. Compounds, such as aminoglycosides antibiotics or TC007, that promote the reading through stop codons, may increase the stability and functionality of the SMN delta 7 protein.
|Challenge||Experiments have been performed in cultured cells and in animal models, but it is not yet knows whether read-through based therapeutic strategies will be suitable for SMA therapy.|
|<< back||continue >>|