National Institutes of Health
Fact Sheet
Progeria
Thirty Years Ago
•
Thirty years ago, virtually nothing was known aboutprogeria, and due to the rarity of the disease, littleresearch was done until the 1990s.
•
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, prematureaging. The condition is estimated to affect one in 8million newborns worldwide. Hutchinson-Gilfordprogeria syndrome (HGPS) is the most severe formof the disease.
•
As newborns, children with progeria usually appearnormal. However, within a year, their growth rateslows and they soon are much shorter and weighmuch less than others their age. While possessingnormal intelligence, affected children develop adistinctive appearance characterized by baldness,aged-looking skin, a pinched nose, and a small faceand jaw relative to head size. They also often sufferfrom symptoms typically seen in much older people:stiffness of joints, hip dislocations and severe,progressive cardiovascular disease.
•
Some children with progeria undergo coronary arterybypass surgery and/or angioplasty in attempts to easethe life-threatening cardiovascular complicationscaused by progressive atherosclerosis. However,there currently is no treatment or cure for theunderlying condition.
•
Death occurs on average at age 13, usually fromheart attack or stroke.
Today
•
In 2003, NIH-funded researchers discovered thatHutchinson-Gilford progeria is caused by a tinymutation in a single gene, known as lamin A(
LMNA
). In laboratory tests involving cells takenfrom progeria patients, researchers found that themutation responsible for Hutchinson-Gilford progeriacauses the
LMNA
gene to produce an abnormal formof the lamin A protein which destabilizes thepatient’s cells.
•
A genetic test for Hutchinson-Gilford progeriasyndrome is currently available. In the past, doctorshad to base a diagnosis of progeria solely on physicalsymptoms, such as skin changes and a failure to gainweight, that were not fully apparent until a child'sfirst or second year of life. This genetic test nowenables doctors to diagnose a child at a younger ageand initiate treatment early in the disease process
.
•
A new mouse model of progeria has been developedthat is helping scientists test experimental therapiesfor progeria and also explore cardiovascular diseasein general.
•
Researchers published cell culture and mouse modelstudies that support a potential drug treatment forchildren with Progeria. Farnesyltransferaseinhibitors (FTIs), originally developed for cancer, arecapable of reversing the dramatic cell structureabnormalities that are the hallmark of cells fromchildren with Progeria.
•
A clinical trial using FTIs is being planned, just a fewyears after the gene was discovered.
Tomorrow
The NIH is poised to make major advances in the treatment of progeria, as well as in the field of aging and in heart disease.
•
NIH-funded researchers are exploring the possiblerole of the wild-type
LMNA
gene in the agingprocess. They are collecting and analyzing DNAfrom a cohort of about 600 centenarians to determinewhether there is something unique about their
LMNA
gene sequence that promotes longevity.
•
Research studies on progeria examined the damagethe mutant protein does to blood vessel cells of humans and mice. The discoveries offer increasedhope for a cure for progeria and may also providekey insight into the cause of adult heart disease.
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| Upload Date: | 01/19/2008 |
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