Progeria: Forever old?

Hutchinson-Gilford Progeria Syndrome is an extremely rare disease that causes the body to age at a rate 8 to 10 quicker than normal. Caused by one tiny hiccup in a child’s genetic code, Progeria has life-changing consequences. The cells of these children deteriorate at such an accelerated rate that by the age of twelve the majority have had a heart attack, stroke, and/or disabling arthritis. The number one killer of children with Progeria is atherosclerosis or cardiovascular disease. And the average age of death is 13. Children with this disease share other ailments as well including premature baldness, high blood pressure, thin bone structures, and short stature. These children’s brains, however, develop completely and have no adverse affects. This phenomenon occurs because the protein that causes Progeria is not expressed in brain cells.

In October 2002, The Progeria Research Foundation's Genetics Consortium discovered that Progeria is caused by a mutation in the protein LMNA (Lamin-A). A mutation anywhere on the protein will cause Progeria, but 70% of the cases are caused by one particular alteration. Lamin-A is the protein that forms the inside of the nucleus. It makes a spider web type structure that holds all the DNA strands in place and keeps the nucleus spherical. When Lamin-A is removed the nucleus becomes amorphous and the DNA becomes scrambled and unable to be read efficiently.

Even more recently, a drug has been developed and 25 brave families have signed up for the first test. Originally developed to aid cancer patients, doctors are hoping the drug will be able to reverse nucleus abnormalities. It has worked well in tests with mice in laboratories, but never before been used on human subjects. This presents hope to patients and a whole new chapter for this extraordinary disease.

Progeria is very rare and only about 100 people have been diagnosed since the discovery of the disease itself in 1886 by its namesakes. However, the disease is dominant and there is a family in India today who has had five children diagnosed with Progeria, two of which have already passed away.

Sources:

I found out about Progeria through a program on the Discovery Health channel called Hayley’s Story. Hayley Okines is a 12-year-old girl living in England with advanced Progeria.

Professor Zane Barlow-Coleman

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http://www.progeriaresearch.org/about_progeria.html