What is a nonsense mutation?
Proteins are essential to the proper working of every cell in the body. A nonsense mutation is a premature stop signal in the genetic code that interrupts the production of an essential protein. When this happens, the protein that is created does not function properly and this in turn causes a disease or disorder. The disease caused by the nonsense mutation depends on which protein is incompletely formed. For example, in nonsense mutation Duchenne/Becker muscular dystrophy (nmDMD/BMD) a muscle protein – called dystrophin – is incomplete. As a result, patients with nmDMD/BMD have weak muscles. In nonsense mutation cystic fibrosis (nmCF) a protein in the lungs and other organs – called the cystic fibrosis transmembrane conductance regulator (CFTR) – is incomplete. As a result, patients with nmCF have problems with breathing and digestion.
