A mouse model of this disease contains a mutation in the protease ZMPSTE24.
A mouse model of this disease contains a mutation in the protease ZMPSTE24. The autosomal form ofEmery-Dreyfuss muscular dystrophy is caused by a mutation in the same gene as the mutation that causesthis disorder. During its synthesis, the protein mutated in this disease is unable to have its farnesyl groupcleaved off, which causes blebbing. This disease is caused by the activation of a cryptic splice site atposition 1824 of Lamin A, a component of the nuclear lamina. Symptoms of this disease, which is oftennamed for Hutchinson and Gilford, include complete alopecia, a large head, and the early appearance ofwrinkles. For 10 points, identify this genetic disease which causes rapid aging.
A mouse model of this disease contains a mutation in the protease ZMPSTE24.
Hutchinson-Gilford progeria