Progeria
Hutchinson-Gilford Progeria syndrome is an extremely rare condition where symptoms resembling some aspects of aging are manifested at an early age, and few affected children live past age 13. About 1 in 8 million babies are born with this condition. It is a genetic condition, but occurs sporadically and is usually not inherited in families.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging.
Children suffering from progeria are born normal, but from age one to two their disease starts to resemble premature aging in some aspects. So by the time they reach their teens they have typical age-related conditions such as brittle bones, stiff joints and severe cardiovascular disease. In the end many die from strokes and heart attacks before reaching their twenties. Presently, there is no cure for progeria. Patients can be treated with drugs called FTIs (farnesyltransferase inhibitors), which were initially developed to treat cancer. These drugs improve some aspects of the disease, such as bone structure, arterial stiffness, and increase estimated lifespan by at least 1.6 years.
Symptoms The earliest symptoms include failure to thrive (FTT) and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are characteristic of progeria. The people diagnosed with this disease usually have small, fragile bodies like those of elderly people.
Later the condition causes wrinkled skin, atherosclerosis and cardiovascular problems.
Cause Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder caused by mutations in one of the major architectural proteins of the cell nucleus.
Unlike most other 'accelerated aging diseases' (such as Werner's syndrome, Cockayne's syndrome or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these 'accelerated aging' diseases display different aspects of aging, but never every aspect, they are often called 'segmental progerias'.
Diagnosis Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.
Treatment No treatments have been proven effective. Most treatment focuses on reducing complications such as cardiovascular disease, such as heart bypass surgery or low-dose aspirin. Children may also benefit from a high-calorie diet.
Growth hormone treatment has been attempted.
A type of anti-cancer drug, the farnesyltransferase inhibitors (FTIs), have been proposed, but their use has been mostly limited to animal models. A phase II clinical trial using the FTI Lonafarnib began in May 2007.
Prognosis There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attacks or strokes.
Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop 'wear and tear' conditions commonly associated with aging, like cataracts and osteoarthritis.
