Nonsense-associated diseases

Patent Pending Nonsense mutations can cause a genetic disease by damaging a gene responsible for a specific protein, for example, dystrophin in Duchenne muscular dystrophy. The same disease may, however, be caused by other kinds of damage to the same gene. Examples of diseases in which nonsense mutations are known to be among the causes include: Cystic fibrosis (caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator gene). Duchenne muscular dystrophy (dystrophin) Beta thalassaemia (β-globin) Hurler syndrome