Gene Mutation

What is it?

Progeria is a very rare and fatal gene condition. It's common name is Hutchinson-Gilford Progeria, affecting children, giving them an appearance of accelerated aging. There are only 53 known cases of Progeria around the world and affects approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria. Most children who have Progeria essentially die of age-related diseases around the age of 13, but some can live into their 20s. Death is typically caused by a heart attack or stroke.

What causes Progeria?

90% of affected children have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria Patients. Progeria seems to occur without cause - it is not seen in siblings of affected children. The disease is not believed to hereditary.