Progeria

Progeria, which is also known as Hutchinson-Gilford progeria syndrome (HGPS) is a rare, fatal condition occurring in children. The word ‘progeria’ comes from the Greek ‘progeros’ meaning ‘prematurely old’. The Greek word ‘pro’ means ‘before’ while the word ‘geras’ means ‘old age’. Progeria disease accelerates the process of aging to about eight times the normal rate. Because of this accelerated aging, a child with progeria that is ten years old will have similar respiratory, cardiovascular, and arthritic conditions of that of an eighty year old. (Willard, 2005).

Symptoms

Children with progeria usually appear normal at birth. By 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. Other signs of progeria may include growth failure, loss of body fat, and stiffness of the joints, hip dislocation, and generalized atherosclerosis. (PRF, n.d.) However, various other features associated with the normal aging process, such as cataracts and osteoarthritis, are not seen in children with progeria.

Life expectancy

The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live 20 years or longer. (Hanfland, 2002).

Cause

90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein responsible for holding the nucleus together. The defective Lamin A protein is believed to be the cause of the unstable nucleus. This instability seems to lead to the process of premature aging among progeria patients. Progeria is considered to be the result of a dominant mutation because the gene in question has one normal copy and one abnormal copy, as opposed to a recessive mutation in which both copies are abnormal. Because neither parent carries or expresses the mutation, each case is believed to represent a sporadic new mutation which happens at the time of conception.

Progeria appears to occur without cause - it is not seen in siblings of affected children. In extremely...