February 23, 2011
Hutchinson-Gilfod progeria syndrome is a fast-aging disease that is rare, has no cure, and is fatal. Children with this disease undergo rapid aging and generally do not live to their teens. It is caused by a single mutation of the LMNA gene, which results in a defect in the production of lamin A, a protein which is required to build the membranous shell around genetic material. The majority of children with Hutchinson-Gilford progeria die from complications pertaining to hardening of their blood vessels. Fortunately, this disease is very rare, as only 64 children in the world are known to have it, however due to the small number of patients suffering from this disease, there are very few opportunities to study it and thus form any type of treatment.
New technology has introduced a new possibility in the treatment of this progeria. In the past five years, scientists have begun using targeted retroviruses that selectively alter DNA in order to cause a regression of cells from the muscle or skin into their stem cell form, pluripotent stem cells. Pluripotent stem cells have the potential to form various different types of cells in the body, depending on where they are transplanted to.
The cells that were taken from the patients were regressed back to their pluripotent stem cell stage by a research team led by Juan Carlos Izpisua Belmonte and Guanghui Liu at the Salk Institute in La Jolla, California. The researchers found that after this regression, the cells from the patients no longer contained the information that corresponded to diseased cells. However, despite the absence of the mutation in the stem cell state, these cells would not necessarily be rid of the defect which sets the fate for the disease. The resetting of the cells does allow for the scientists to study the progression of the disease its beginning.
Liu’s lab is working on a technique that will fix the genetic mutation responsible for the progeria in hopes of developing a treatment or even a cure for the disease. “Hopefully our efforts will be useful to generate … [non-symptomatic] progeria cells and help those progeria patients in the near future,” he said.