In a study published Monday in the online edition of the Proceedings of the National Academy of Sciences (PNAS), Brian Capell and his colleagues at NHGRI reported that drugs known as farnesyltransferase inhibitors (FTIs), which are currently being tested in people with myeloid leukemia, neurofibromatosis and other conditions, might also provide a potential therapy for children suffering from Hutchinson-Gilford Progeria Syndrome, commonly referred to as progeria. A related study from Stephen Young, M.D., and colleagues at the University of California at Los Angeles is being published in the same issue of PNAS.
There are currently no treatments for progeria, which is a genetic disorder estimated to affect one child in 4 million. When they are born, children with progeria appear normal. But, as they grow older, they experience growth retardation and show dramatically accelerated symptoms of aging -- namely hair loss, skin wrinkling and fat loss. Accelerated cardiovascular disease also ensues, typically causing death from heart attack or stroke at about the age of 12.
"Our findings show that FTIs, originally developed for cancer, are capable of reversing the dramatic nuclear structure abnormalities that are the hallmark of cells from children with progeria. This is a stunning surprise, rather like finding out that the key to your house also works in the ignition of your car," said NHGRI Director Francis S. Collins, M.D., Ph.D., who is the study's senior author.
The new work involved using FTIs to treat skin cells taken from progeria patients and grown in laboratory conditions. If upcoming studies in a mouse model validate the
Source:NIH/National Human Genome Research Institute