Possible Treatment for the Genetic Disease Called Progeria

An description of Hutchinson-Gilford progeria syndrome, its symptoms, and the possible breakthrough in possible treatments for it by Dr. Francis Collins.

A rare genetic disease called Hutchinson-Gilford progeria syndrome or progeria for short affects about 200-250 people worldwide. Progeria is caused by a point mutation, which is the accidental substitution of an incorrect nitrogenous base, in a person’s genetic code. This tiny genetic accident causes a deleterious protein called progerin to accumulate in that person’s cells because the cells are unable to correctly dispose of progerin. Progerin is present in the cells of all healthy people’s cells but only in small amounts because normal healthy people have the cellular machinery to rid their cells of this toxic protein and other damaged molecules.

People with progeria exhibit symptoms of accelerated aging, which is extremely disheartening. It is hard 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 minds of these children that suffer from progeria grow normally like any other child’s mind. This is undoubtedly a harrowing psychological experience for these children that is continuously exacerbated by the rapid deterioration of their bodies.

Dr. Francis Collins, a geneticist who is well-known for being a leader in the Human Genome Project, has taken special interest in researching progeria because of a case he observed in a young girl named Meg Casey about thirty years ago when he was a young doctor at Yale University. He tragically could do nothing to help Meg Casey, but he has since completed a prodigious amount of research on progeria, which has led to some possible treatments. Last week, he and several other colleagues published a study about a 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.

In the study on rapamycin and its ability to treat progeria, researcher biopsied live cells from progeria patients and treated those cells with rapamycin. After the treatment with rapamycin, the progeria cells looked like any normal cell. Rapamycin appeared to have activated the cellular machinery that was supposed to be disposing of progerin and damaged molecules that were accumulating in the cell. However, rapamycin is not a miracle cure because it is an immunosuppressant drug with numerous side-effects. Rapamycin cripples the immune system, making patients more susceptible to infections and it raises cholesterol levels, which is especially dangerous for patients with weak circulatory systems. The upcoming clinical trials with rapamycin are much anticipated and will hopefully bring much hope to people with progeria and their families.

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