Hutchinson-Gilford Progeria Syndrome, also known as “Progeria,” is a genetic disease that causes accelerating symptoms of aging in children (Progeria: Hutchinson-Gilford Progeria, 2007). Though extremely rare, this devastating disease is universally fatal. The purpose of this paper is to examine the causes, effects, and current treatments of this deadly disease.
Progeria occurs due to a mutation in the LMNA gene. In normal cells, this gene encodes the structural protein lamin A. Lamin A, along with lamin B and lamin C, is a supporting component of the nuclear envelope (The Science Behind, 2014). It provides strength and stability to the cellular nucleus. A mutation in the LMNA gene causes the production of defective lamin A. This causes instability in the nuclear envelope (Bouhouche, 2007). This misshapen nuclear envelope renders the cell unable to replicate its DNA and divide normally. This action results in the signature symptoms of Progeria – rapid, accelerating aging, along with a host of resulting health problems which will be outlined throughout this paper.
Children with Progeria appear normal at birth. According to the Progeria Research Foundation, Progeria causes no abnormal complications during pregnancy or childbirth. The only variation from normal pregnancies and childbirths is a slightly lower birth rate among Progeria patients; symptoms usually first manifest between 18 and 24 months of age (Diaz, 2011). A distinctive blue vein appears across the bridge of the baby’s nose; slow growth and slight hair loss soon appear. The symptoms then become more serious over time. They experience dilated veins around the head, and inadequate room for tooth development (Pesce & Roth, 1996). They begin to lose subcutaneous fat, their eyes bulge, and their skin becomes fine, thin, and wrinkled. While children with Progeria have age-appropriate mental function, they experience extremely limited physical development.
In Progeria patients, one year of life is equal to approximately 10 years of aging in a normal body. Thus, the disease's most serious symptoms appear when the patient reaches four to five years of age. This is the age at which the disease begins to affect the patient's cardiovascular system (Diaz, 2011). The risk of heart disease and cerebral infarction in Progeria patients is drastically increased. Researchers estimate a full 80% of Progeria deaths occur due to congestive heart failure or heart attacks. Strokes are only marginally less common (Gordon, Brown, & Collins, 2011).
Progeria is extremely rare. Researchers estimate it occurs in only one of every four to eight million births. (Diaz, 2011). At present, there are only 105 identified children in 38 countries living with Progeria. Yet the disease strikes across racial, ethnic, and gender lines. There are no known risk factors for Progeria. It does not seem to have any genetic precursors, or to travel along family lines (HGPS, 2007). According to Dr. Francis Collins, “There is no...