Medical Info: Progeria

Progeria is commonly referred to as an "early aging disease." Although whether early aging actually occurs or whether this is a disease with many symptoms that look like aging is debated. It is also known as Hutchinson-Gilford progeria syndrome (HGPS), named after Jonathan Hutchinson, who first described the disease in 1886 and Hastings Gilford (1904), who was the first to refer to the disease as progeria.

It is fortunately an extremely rare disease. Only somewhat more then 100 cases have been reported since it was discovered, and is estimated to affect only 1 to 2 children in 8 million. It is, however, a particularly tragic disease in that it typically strikes children before the age of 10 years, who then usually die before their teens. Patients have some characteristics of aging such as baldness, a pinched nose, delayed tooth formation, stiffness of joints, hip dislocations, cardiovascular problems, arteriosclerosis, wrinkled/aged-looking skin, and a premature cessation of growth (dwarfism). They do not, however, typically show other characteristics of aging such as Alzheimer's disease, and arthritis of the hips in these patients is a result of having been born with dislocated hips, not as an aging process.

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Causes:

Progeria is an autosomal recessive disease, meaning that an individual carrying a mutation in a single gene does not show any symptoms. When two individuals with the mutant gene have a child, that child has a 1 in 4 chance of inheriting two copies of the mutation and therefore having the disease. The mutation that is responsible for the disease is in the gene for lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. This results in changes in shape of the nucleus and probably in its function. It is not known how this produces the wide range of age-like changes associated with progeria. It is intriguing that mutation of the gene for lamin A is also involved in several other distinct diseases, including muscular dystrophy. Clearly, there is more to be learned about the mechanism of this disease.