The remarkable and unprecedented discovery that the majority of patients with CMT 1A carry three copies of the PMP22 gene, instead of the usual two immediately suggested that treatment of this disease would require turning down production of PMP22 protein.
Exciting advances in the ability to therapeutically regulate gene expression has set the stage for developing new approaches to treat this disorder. Modulation of PMP22 expression as a therapeutic strategy may be approached in a variety of ways including modulation of messenger RNA transcription or stability, modulation of messenger RNA translation, or stability or localization of the resulting polypeptide.
Knowledge about the molecular switches that regulate PMP22 gene expression is limited. Because development of strategies to affect these switches may well emerge as a viable therapeutic approach, we will follow this line of investigation namely, the identification of DNA switches that normally regulate PMP22 levels and to leverage these discoveries to design therapeutic strategies for patients with CMT 1A.
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