Testing the efficacy of Ataluren on restoring dysferlin expression and function in a mouse model

Noah Lucas Weisleder, PhD

Ohio State University

Noah Lucas Weisleder, PhD is an associate professor in the Department of Physiology and Cell Biology at Ohio State University Wexner Medical Center.

Research Projects

Recent efforts to develop therapeutic strategies for the treatment of some forms of muscular dystrophy have focused on various approaches to allow for read-through of premature stop codons and similar variations that alter the expression of genes relating to muscular dystrophy.   These approaches attempt to avoid the effects of a single nucleotide in the DNA sequence that encodes for a protein. Presence of this non-sense mutation may completely disrupt the reading frame of the protein and produce an incomplete, non-functional truncated protein. Extensive pre-clinical and clinical studies have shown that ataluren, also known as PTC124, increases read-through the nonsense stop codon to produce functional transcripts. This drug has been tested for its efficacy and safety in a number of models of muscular dystrophy and is now under clinical evaluation with over two dozen clinical trials either completed or underway in a variety of genetic disorders. In this project we will evaluate the efficacy of ataluren to induce the production of functional dysferlin protein in a mouse model of LGMD2B.