Progeria is a rare condition but has come into public awareness because its symptoms strongly resemble normal human aging as well as the appearance of several affected children in movies on national television.

Lamin A is the name of the gene recently identified as causing some types of progeria. Lamin A codes for a protein that surrounds the nucleus of cells. Further study of lamin A will hopefully answer why mutations in this gene cause such striking premature aging.

Progeria results in rapid aging of children, beginning with growth failure during the first year of life that results in disproportionately small bodies given the size of their heads. The children are thin with baldness, wizened narrow faces, and old-appearing skin.

Children with progeria develop early atherosclerosis. The average lifespan is the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.

• Growth failure during the first year of life
• Narrow, wizened (shrunken or wrinkled) bird-like faces
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly)
• Soft spot (fontanelle) remains open
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
• Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
• There may be early atherosclerosis of blood vessels leading to abnormal stress tests of the heart

Progeria Research Foundation, Inc.

P.O. Box 3453

Peabody, MA 01961-3453

Phone: 978-535-2594

www.progeriaresearch.org

progeria@netzero.net

• Stroke
• Myocardial infarction