Sentences with phrase «dystrophin production»

«The very slight increases in dystrophin production didn't seem to me reasonably likely to predict the possibility of clinical benefit,» says internist Aaron Kesselheim of Boston's Brigham and Women's Hospital, who was one of the FDA advisory committee members who voted against recommending approval of eteplirsen.

«There may be factors that lead to preferential localization of the dystrophin production.

Although there was no dystrophin production at 12 weeks, participants showed a 23 percent increase in dystrophin - positive muscle fibers by the 24 - week mark.

For example, researchers would like to know how the drug affects dystrophin production in muscles throughout the limbs and whether some muscles may get a bigger boost than others.

«This work demonstrates the feasibility of using a single gene editing platform, plus the regenerative power of stem cells to correct genetic mutations and restore dystrophin production for 60 percent of Duchenne patients,» said Pyle, associate professor of microbiology, immunology and molecular genetics and member of the Broad Stem Cell Research Center.

Not exact matches

Duchenne mutations cause abnormally low production of the dystrophin protein, which in turn causes muscles to degenerate and become progressively weaker.

«We took patient - derived cells that had the most common mutation responsible for Duchenne muscular dystrophy and we corrected them in vitro to restore production of the missing dystrophin protein in the cells.

The exact mutation varies from patient to patient but in 65 percent of cases, the dystrophin gene is missing large sections of DNA called exons, which carry the instructions for protein production.

Within the mutational hotspot for dystrophin, exons 45 - 55, there are multiple common deletions that maintain the protein's reading frame, leading to the production of a smaller, but at least partially functional protein.

Muscular dystrophy in dogs is caused by an inherited mutated dystrophin gene that disrupts the dystrophin protein production, resulting in loss of muscle function.