Hutchinson-Gilford progeria syndrome (HGPS), also called progeria or premature aging syndrome, is a medical disorder in which a random genetic mutation causes cells in the body to die at a much faster rate than normal. Its name derives from the Greek and means “prematurely old.” Progeria is so rare it occurs only once in every 8 million births; at the time this article was written, only 62 people around the world were known to be living with the disorder.
Rare diseases provide medical researchers a window to better understand how the body works. Recent groundbreaking research on progeria may not only be paving the way toward an effective treatment, but could explain some of the mysteries of aging, including cancer.
Symptoms of Progeria
Although children with progeria have normal intelligence and motor control skills, they look older than they actually are. They appear normal at birth, but within 6 months to 2 years, symptoms of premature aging start to emerge. During this time, the child grows at a much slower rate in terms of height and weight than children of the same age. Clinical features of progeria include a disproportionately large cranium, small jaw, prominent scalp veins, baldness, wrinkled/thick skin, loss of body fat, cardiovascular disease and stroke, hearing loss, stiffness of joints and hip dislocation. If a doctor suspects a child has progeria, a genetic test may be performed to confirm a diagnosis.
Despite these sobering symptoms, most children with progeria can thrive and live remarkably healthy lives. However no cure exists and the life expectancy of a progeria patient is tragically short. Ninety percent succumb to complications related to atherosclerosis, or heart disease. Children with progeria may live to be 7-30 years old, but on average most die by age 13.
Medical Research Breakthrough
In 2003 an exciting medical breakthrough occurred when researchers discovered a mutation in the LMNA gene that produces lamin A protein. In normal circumstances, lamin A contributes to making proteins that hold the centers (nuclei) of cells together. When LMNA is mutated one of these proteins, now identified as progerin, is not produced properly making the nuclei unstable. Subsequently cells die prematurely, leading to symptoms of progeria.
“What we are learning now is that all of us have this protein in our bodies, and we have more of it as we age,” says Dr. Leslie Gordon, MD, PhD, cofounder and medical director of The Progeria Research Foundation. “This is a major discovery because it means that we now know about something that is directly related to aging.”
Progeria is not simply accelerated aging. While it does resemble many of the characteristics seen in a typical aging population, important differences exist, including a lack of higher cancer rates.
“There is a subset of the features of aging that progeria is an excellent example for,” says Jeffrey Innis, MD, PhD, a pediatric geneticist at the University of Michigan Medical School. “The research that’s being done is trying to tease out the molecular mechanisms involved in making an individual appear to have features of aging in some areas but not others.” Progeria children do not exhibit higher incidences of cancer, but they do suffer cardiovascular problems of someone 10 times their age.
New Hope for Progeria Patients
The discovery of the progeria gene has spurred 3 clinical drug trials, including one between the Progeria Research Foundation and Children’s Hospital Boston, where 28 children from 16 countries, ages 3-15, participated between 2007-2009. A new “triple drug trial” began in 2010 in Boston with 45 children from 24 countries, speaking 17 languages enrolled . All of the trials have involved trying to block the production of progerin, the protein made in the mutation. These medical research strides are giving progeria children and their families new hope for an effective treatment, and shedding new light on the phenomenon of aging.
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