Thursday, April 26, 2012

Progeria


Progeria

  • Progeria is a genetic disorder that does not show itself until a child is about one year old. Within that year, the children are soon much shorter and weigh much less than others their age. These children also “develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (“Progeria” 1). These children also have “symptoms typically seen in much older people such as stiffness of joints and hip dislocations” (“Progeria” 1).
  • Progeria is caused by a tiny, point mutation in a single gene called lamin A (LMNA). This gene codes for two proteins that “play a key role in stabilizing the inner membrance of the cell’s nucleus” (“Progeria” 1).
  • There is no possible treatment or cure for children with Progeria. This devastating condition will eventually kill the child around age 13. Unfortunately, this death is typically caused by a heart attack or stroke.
  • Progeria is derived from the Greek word meaning old age “geras” (“Progeria” 1).

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