Six Going on Sixty: The Appearance of Rapid Aging with Progeria Syndrome

Progeria syndrome (formally referred to as Hutchinson-Gilford progeria syndrome or HGPS) is an extremely rare condition in which young children begin aging at 8 to 10 times the normal rate.1 Progeria is a genetic condition that is not usually inherited, although there is a uniquely heritable form. "Because of this accelerated aging, a child of ten years will have similar respiratory, cardiovascular, and arthritic conditions that a 70-year-old would have."2 HGPS affects approximately 1 in 8 million live births.3 Currently there are between 35 and 45 known cases in the world. F. Scott Fitzgerald's 1922 short story The Curious Case of Benjamin Button features a character born as a seventy-year-old man who ages backwards. The popularity of the story – likely inspired by progeria –  and the 2008 film starring Brad Pitt are two main contributors to cultural awareness of accelerated aging diseases.

The word “progeria” stems from the Greek “progeros,” meaning “prematurely old.” Most children born with Hutchinson-Gilford are given a thirteen-year life expectancy; a small percentage lives to see their twenties, and even fewer may reach their forties. Typically, complications of atherosclerosis, such as heart attack or stroke, cause an early death in the teen years.

Children with progeria syndrome appear healthy at birth, but then they begin to develop more slowly than average and fail to gain weight at a normal rate. HGPS patients also develop scleroderma, which is a chronic systemic autoimmune disease characterized by hardening and vascular alterations of the skin. Another progeria characteristic is distinguishable facial features, including prominent eyes, a thin nose, a small chin, and protruding ears. Joint abnormalities, subdermal fat loss, and hair loss also contribute to the older visage. While those with HGPS may appear advanced in age, motor skills like walking do not progress rapidly. Progeria affects all races and both sexes equally.4

Genetic Mutation

Progeria is caused by a point mutation in position 1824 of the LMNA gene, repcurrlacing cytosine with thymine. Although progeria is often colloquially grouped with other "accelerated aging diseases," it should not be confused with Werner's syndrome or Cockayne's syndrome, which are merely "segmental progerias," not displaying every aspect of aging. Parents rarely pass the disease to children; it is a sporadic autosomal dominant mutation. "For a family with one child with HGPS, non-twin siblings have the same chance of having HGPS as any other child in any other family – approximately one in 4-8 million."4 To date, there is no cure for progeria.

1. "Learning About Progeria"
2. Information Progeria
3. Progeria. Incidence of Progeria and HGPS
4. Progeria Research Foundation

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