A rare genetic disease called Hutchinson-Gilford progeria syndrome or simply progeria affects only 200-250 people worldwide. Progeria is caused by a single point mutation, the accidental substitution of an incorrect nitrogenous base, in a person’s genetic code. This single genetic accident causes a deleterious protein called "progerin" to accumulate in that patient's cells which are unable to correctly dispose of progerin. Progerin is present in the cells of all healthy people’s cells but only in small amounts since normal healthy people can metabolically rid their cells of progerin toxic proteins and other damaged molecules.
Symptoms of Progeria
People with progeria exhibit symptoms of accelerated aging which an extremely disheartening event. It is difficult to see a bald ten-year old with heart disease or an eight-year old have a stroke. Furthermore, the symptoms of aging are only physical; the children that suffer from progeria grow and mature normally as any other child’s mind of that age does. This is a difficult psychological experience for these children and it is continuously exacerbated by the rapid deterioration of their bodies.
Dr. Francis Collins and Meg Casey
Dr. Francis Collins, a geneticist and well-known leader in the Human Genome Project, has taken special interest in researching progeria. He first observed a real case of progeria in a young girl named Meg Casey about thirty years ago when he was a young medical doctor at Yale University. He could do nothing medically to help Meg Casey, but since that time he has completed much research on progeria and some possible treatments. Last week, he and several other colleagues published a study of possible treatment for progeria in Science Translation Medicine. The results of the study indicate that an immunosuppressant drug called rapamycin may slow the progression of progeria.
Rapamycin
The progeria-rapamycin study involved an analysis of biopsied live cells from progeria patients and treated those cells with rapamycin. After treatment with rapamycin, the progeria cells from progeria patients looked like normal cells. Rapamycin appeared to activate the cellular machinery that could dispose of progerin and other damaged molecules that were accumulating in the cell. However, rapamycin is not a miracle cure because it is an immunosuppressant drug with numerous, potentially-harmful, secondary effects. Rapamycin cripples the immune system, renders patients more susceptible to infections and it raises cholesterol levels that is especially dangerous for patients with weak circulatory systems. The much-anticipated, upcoming clinical trials with rapamycin, hopefully, will help people with progeria and provide comfort to their families.
Sources
Park, Madison. "Clue to kids' early aging disease found." CNNHealth. CNN, 1 July, 2011. Accessed 5 July, 2011 @ progeria.treatment.aging.collins/index.html.
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