Progeria

By Sarah Mohammed

Abstract

There are various genetic diseases, including down syndrome, cystic fibrosis, sickle cell anemia, and much more. One that many are unaware of is progeria (Hutchinson-Gilford progeria syndrome), a rare genetic disease that results in premature aging. It is caused by a mutation in a single gene known as LMNA, responsible for producing the Lamin A protein, known for holding the nucleus of a cell together. A mutation in this gene makes the nucleus unstable, leading to a premature aging process. Although there is no cure for this disease, there are treatments to slow it down.

Symptoms

Other progeroid syndromes include Werner’s Syndrome, also known as adult progeria. Patients can live up to 40 or 50 years with this disease. The oldest recorded survivor of progeria (Hutchinson-Gilford progeria syndrome) is Margaret Casey, 29 years old.

Symptoms of Hutchinson-Gilford Progeria syndrome include an abnormally large head, larger eyes, hair loss, high-pitched voice, and slow tooth growth. These symptoms are easily identifiable in the first two years of a person's childhood and the average lifespan is fourteen years. As affected children age, they will most likely experience bone loss, heart disease, and hardening of their arteries, often diseases seen in people of old age. Most children with progeria die of heart related complications, including problems with blood vessels that supply the heart—a heart attack—and with blood vessels that supply the brain, otherwise known as a stroke.

Treatments

Treatments for progeria include FTIs, a cancer drug used to fix damaged cells. Drugs are also be prescribed to lower cholesterol and/or prevent blood clots, along with growth hormones and low doses of aspirin. In addition, physical therapy is helpful in keeping the body moving, especially if the child has stiff joints. Finally, children may also undergo coronary bypass surgery to slow the progression of heart disease. All of these treatments listed are not a cure, but are methods of symptom management which can significantly increase the lifespan of someone diagnosed with progeria.

Progeria is an extremely rare disease that has no cure available. However, treatments can slow down aging, and the Progeria Research Foundation works actively to find a cure for this disease. By maintaining awareness about rare diseases, we can expand our knowledge and assist with ongoing research projects today. A noteworthy victim of Progeria was Sam Berns, with an astonishing 40 million views in his Ted Talk about his philosophy for a happy life. Check out his video to learn about the life of someone with Progeria and how they overcome their difficulties.

Sources

“About Progeria.” The Progeria Research Foundation, 9 May 2019,

www.progeriaresearch.org/about-progeria.

“Progeria.” WebMD, 28 Mar. 2014, www.webmd.com/children/progeria#2.