Progeria

Progeria (also known as Hutchinson-Gilford Progeria Syndrome) is a rare, fatal genetic condition characterized by the dramatic, accelerated appearance of aging in children. While the average life expectancy of those affected by Progeria is typically around 13 years of age, recent medical advances have improved the prognosis of patients and some may now live into their early twenties. Progeria is caused by a single gene mutation involving the LMNA gene. This gene is responsible for creating the protein lamin A, which helps maintain the integrity of a cell's nucleus. With this mutation, the lamin A protein is produced in an altered form, leading to defects in the nucleus and resulting in the signs and symptoms of Progeria. Researchers also believe that Progeria may provide important insights into normal human aging as many of the features seen in Progeria are similar to those found in the general aging population. This knowledge may eventually lead to improved diagnosis and treatments for age-related diseases.