How Well Do You Know Progeria?

Progeria is a rare genetic disorder that causes rapid aging in children. Children with progeria appear normal at birth but begin to show signs of aging within six to twelve months, including changes to their skin and loss of hair. They grow slowly, do not gain weight at the normal rate, and have prominent eyes, thin noses, small chins, and protruding ears. Their average life expectancy is only about thirteen years.

HGPS is caused by a mutation affecting the gene that encodes the protein lamin A. Lamin A forms part of the scaffold supporting the membrane around the cell’s nucleus, and so is critically involved in maintaining the structure and organization of the nucleus. In HGPS, the diseased nuclei are misshapen, which some researchers believe renders cells unstable.

The specific mechanism involved in HGPS is that prelamin A, a premature form of lamin A, is toxic. Reducing its levels by 50 percent eliminates the misshapen nuclei in cultured cells and completely 'cures' the disease symptoms in mice. Blocking a reaction involving prelamin A lessens the aging-like signs in mice. These studies suggest possible ways of treating children with progeria.