WEDNESDAY, June 29 (HealthDay News) -- A drug currently used to
fight rejection in organ transplant recipients may also reverse DNA
cell damage in children with a rare, deadly disorder that leaves
them old long before their time, a new study suggests.
Researchers from the U.S. National Institutes of Health and
several universities and hospitals used the antibiotic rapamycin on
skin cells taken from children with Hutchinson-Gilford progeria
syndrome (HGPS), which typically kills sufferers during their
teenage years. About 100 cases of progeria have been documented
since the disease was discovered at the turn of the 20th
Rapamycin appeared to heighten the cells' ability to clear out a
toxic protein called progerin, which causes children with progeria
to develop skin and joint problems as well as advanced
cardiovascular disease that quickly proves fatal. Progerin is
present in small amounts in normal human cells and accumulates with
"We found it pretty exciting that this drug has such a profoundly positive effect on cell cultures," said NIH Director Dr. Francis Collins, co-author of the study. "The ability to understand the molecular basis [of diseases] and develop targeted therapies makes this a very exciting time to be a physician."
The study is published June 29 in the journal
Science Translational Medicine.
In 2005, researchers announced that a class of cancer-fighting
drugs called farnesyltransferase inhibitors (FTIs) might prevent
the cellular flaw behind progeria. Rapamycin targets a different
pathway than FTIs, meaning the combination may someday prove to be
a one-two punch to progeria, said Dr. Leslie Gordon, medical
director and co-founder of the Progeria Research Foundation and the
mother of a teenage son with the disorder.
Because these drugs are already approved by the U.S. Food and
Drug Administration for other conditions, their safety is
well-established and the approval process to be repurposed for
progeria may be streamlined, Gordon said.
"We're incredibly fortunate here... we have a wealth of information to draw from," she said. "We have the potential to attack progeria from different angles. I like that this comes at progerin in a completely different way."
Collins said a drug similar to rapamycin called everolimus,
which targets the same molecular pathways, has already been
evaluated in clinical trials with children and would likely be the
drug used in clinical trials for progeria. While a timeline for
such trials is uncertain, Collins said it might be only a few years
before researchers know if children with progeria could
The experiments may also reveal clues about the normal aging
process and how to potentially slow it down, Collins said.
"It's clear that this is the same toxic protein also made by you and me, especially as our cells reach the end of their lifespan," he said. "It would be interesting to contemplate if what we learned here can be used to extend our own lifespan."
To learn more about
progeria, visit the Progeria Research Foundation.