How common is progeria?
The “classic” form of progeria, Hutchinson-Gilford Progeria Syndrome (HGPS), affects about 1 in 4 million newborns—so rare that there are only an estimated 200 to 250 children in the world living with the condition at any one time. It affects both sexes equally and all races.
What causes progeria?
It was discovered in 2003 that HGPS is caused by a mutation in the gene called LMNA. The mutation is very rare, and is what’s known as “sporadic”—a new genetic change in a family that’s not inherited.
The LMNA gene produces a protein called Lamin A that forms the structural scaffolding that holds the nucleus of a cell together. In progeria, this protein takes an abnormal form called “progerin.”
Progerin can’t be processed properly by the cell and builds up just inside the cell nucleus, eventually causing the cell to collapse. It’s believed that this leads to at least some of the signs of premature aging in progeria.
Many cells in the body – such as the blood vessels, skin, and bones – make progerin protein. Healthy people also produce it, but at much lower levels, and it’s believed that some aspects of normal aging, like atherosclerosis, may result from gradual build-up of progerin over our lifetimes.
Other types of progeria have other genetic causes; for example Cockayne syndrome is caused by mutations in either of two genes known as ERCC6 and ERCC8, and Werner syndrome by mutations in the WRN gene. These mutations lead to different kinds of changes that also result in early aging.
How is progeria diagnosed?
Now that the gene mutation has been identified for HGPS, there is a clinical diagnostic test available. To date, the Progeria Research Foundation has paid the cost for most patients to be tested at a certified lab.
After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of blood is taken to look for the genetic mutation causing progeria. This leads to more accurate and earlier diagnoses, allowing children to have the best possible quality of life. Blood samples can be sent by mail from anywhere in the world.
Is there a treatment?
While there is currently no “cure” for progeria, there are measures that can be taken to ensure the best quality of life for children with the disease. Click the Treatment & Care tab to learn more.
In addition, Boston Children’s hospital recently completed a clinical trial, funded by the Progeria Research Foundation, testing a drug called lonafarnib, an oral medication originally developed as a treatment for malignant brain tumors. It reduced or reversed some features of premature aging, most importantly cardiovascular disease. We think these results are very encouraging.
A second trial, funded by PRF and the National Institutes of Health and now close to completion, is now underway. It is testing lonafarnib plus two additional drugs.
Click the Research & Innovation tab to learn more about these studies.
Is progeria passed down from parent to child?
HGPS is not usually passed down in families. The gene change is extremely rare and almost always happens by chance. It is known as a “sporadic autosomal dominant” mutation, meaning that it is a new change in that family, and needs to occur in only one copy of the gene in order for a child to be affected.
- For parents who have never had a child with progeria, the chances of having a child with progeria are 1 in 4 million.
- However, for parents who have already have a child with progeria, the chances of having another child with the disease is much higher—about 2 to 3 percent.
- Prenatal testing is available to look for the LMNA genetic change that causes HGPS.
Less is known about “premature aging” syndromes other than HGPS; it is possible some cases may be passed down in families.
Will my child be able to live a normal life, even if it’s shorter?
Yes. Although lifespan is shortened, children with progeria are able to participate in the same school programs and sports activities as other children. Most have no limitations, other than shorter stature and perhaps stiff joints. The Progeria Research Foundation has published a helpful handbookthat includes detailed information on living with progeria (see chapters 16 and 17).
(Adapted from information compiled by the Progeria Research Foundation.)