Muscle Building Blog

Masking RNA mutations has allowed boys with Duchenne muscular dystrophy to make a missing, bmuscle/b-strengthening protein for the first time

In a patient with bmuscle/b weakness and cardiac arrhythmia, marked depletion of glycogen was shown in skeletal bmuscle/b and an accumulation of abnormal storage material was shown in the heart. Sequencing of the glycogenin-1 gene revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other. These mutations resulted in inactivation of the priming of glycogen synthesis.

In a genetic engineering breakthrough that could help everyone from bed-ridden patients to elite athletes, a team of American researchers - including 2007 Nobel Prize winner Mario R. Capecchi - have created a switch that allows mutations or light signals to be turned on in muscle stem cells to monitor muscle regeneration in a living mammal.