The Curious Case of Benjamin Button

“The Curious Case of Benjamin Button” is notable not just for having the least likely title of a major Hollywood hit since “Forest Gump.” It also features images you don’t see every day: Using sophisticated makeup, long segments of the tale show superstar Brad Pitt’s face, aged beyond his years. He looks so different that a confused Angelina would kick him out of their kids’ nursery. His wrinkled countenance is then seamlessly computer grafted onto a diminutive body.
The flick follows “Benjamin Button,” born small, but appearing elderly and arthritic, who then spends the remaining screen time becoming physically younger. While this concept is fantasy, the situation of child who looks geriatric is very rare but very real.
Progeria (also called Hutchinson-Gilford Progeria Syndrome or HGPS) is an extremely rare condition. This is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate. They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Like Pitt in the film, people affected with this rare condition experience hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.
People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.
Unlike Pitt’s character, their premature aging does not reverse. Fortunately, the likely cause of HGPS has been discovered: Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of HGPS.
HGPS is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. The diagnosis can be made by analyzing the DNA of blood and skin biopsy samples. There is also research focused on a medicine which may help to stabilize the protein. This medicine showed a reversal of the cell damage when tested in animals. Tests in humans have recently begun.
Fixing this condition won’t be as easy as pressing a “Button.” Since this abnormal protein may also play a role in normal aging, someday, the plot of “Benjamin Button” may not be so farfetched.