A Novel Target for Treatment of Rare Genetic Diseases Caused by Nonsense Mutations
Duchenne Muscular Dystrophy (DMD) and Becker Dystrophy Molecules tested on patient-derived cells: 5-AzaC, Ataluren, Amlexanox, +8 new drugs Project ID : 6-2018-4579
Summary of the technology
Duchenne Muscular Dystrophy (DMD) and Becker Dystrophy
Molecules tested on patient-derived cells: 5-AzaC, Ataluren, Amlexanox, +8 new drugs
Project ID : 6-2018-4579
Description of the technology
A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein, such as dystrophin in Duchenne muscular dystrophy. Nonsense mutations caused by premature stop codon, are treated using read-through therapies that are only partially efficient since they rely on the existence of mutant mRNA which is unstable.
The proposed invention is anovel target for the treatment of genetic diseases caused by nonsense mutations, which increases the success of current read through therapies, and may serve as a stand-alone treatment in cases that premature stop codon is not involved but the mRNA is unstable for other reasons.
Preliminary results to support the core of the invention were obtained in patient-derived cells.
Next steps are in-vivo studies
Figure 1. A general scheme of nonsense mutation causing mRNA degradation and mRNA stabilization by targeted drugs.