Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and serious genetic disorder affecting children starting in their first two years of life. The name Progeria is a Greek word that means “prematurely old.” It causes children to age prematurely. It is caused by a mutation of the gene LMNA or lamin A on chromosome 1. Lamin A protein is the scaffolding that holds the nucleus of the cell together.
Defect in lamin A protein causes instability in the nucleus that leads to rapid aging characteristic of Progeria. HGPS is not hereditary unlike other genetic mutations. It is a “sporadic autosomal dominant” mutation. The change in the gene is a chance occurrence affecting a single sperm or a single egg just before conception. The mutations in the genes are new or de novo. Neither parent is a carrier.
Progeria is a very rare genetic condition. The reported incidence of Progeria is about 1 in 4-8 million newborns. The first child to be reported with this condition was told in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford. It affects both males and females regardless of race or ethnic group. Cases of children with Progeria are reported from all over the world including in “Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia” (www.Progeriaresearch.org).
The signs and symptoms of Progeria do not appear at birth. Children start to experience the signs and symptoms by the age of 6 to 12 months. The growth of the children with Progeria slow down that their height and weight drop lower than the average for their age. Although the motor and mental developments of the children remain normal, children with Progeria have a number of irregular characteristics.
- Disproportionately small face in comparison to the head
- An underdeveloped jaw (micrognathia)
- Malformation and crowding of the teeth
- Abnormally prominent eyes
- A small, nose
- Subtle blueness around the mouth
- The scalp hair, eyebrows, and eyelashes are lost (alopecia)
- The scalp hair may be replaced by small, downy, white or blond hairs
- Generalized atherosclerosis
- Cardiovascular disease and stroke
- Hip dislocations
- Unusually prominent veins of the scalp
- Loss of the layer of fat beneath the skin (subcutaneous adipose tissue)
- Defects of the nails
- Joint stiffness
- Skeletal defects (www.raredisease.org).
Children with Progeria develop generalized atherosclerosis or the thickening and stiffening of the walls of the arteries. This complication results to the restriction of the blood flow to their hearts and brain. The main causes of death to children with Progeria are cardiovascular abnormalities including heart attack and congestive heart failure. Other causes of death are stroke and severe malnutrition.
Typically, the doctors base their diagnosis of Progeria on the signs and symptoms or the appearance of the child. Since one of the symptom of Progeria is the thickening and stiffening of the arteries, blood samples can also be helpful in determining whether the child has a low level of high-density lipoprotein (HDL) cholesterol or the cholesterol that keep arteries open. But with the identification of the gene mutation that causes Progeria, a Diagnostics Testing Program was created to diagnose children with suspected Progeria earlier before the manifestation of the signs and symptoms. Sample of blood will be taken to be tested for the Progeria gene to see if there is a mutation.
Although there is no known cure for Progeria, doctors focus on the monitoring of the cardiovascular disease of the children. To ease some of the symptoms, children take low-dose aspirin daily to help prevent heart attacks and stroke. They also take high-calorie supplements to help prevent weight loss and to ensure adequate nutrition. Physical and occupational therapy may help with joint stiffness and hip problems so that the children to remain active. Some infants who have cannot feed properly may be assisted with a feeding tube and a syringe. Because the permanent teeth of children with Progeria start to come in before the baby teeth fall out, extraction of primary teeth prevents overcrowding or growing of second row of teeth.
Farnesyltransferase inhibitors (FTIs) are newly developed drugs that have potential in treating Progeria. Although these are originally produced for cancer, studies in laboratories show that they have the ability to correct the cell defects that cause Progeria. These drugs still need a lot of tests, though, to verify its therapeutic effect on Progeria.
Being a very rare and fatal disease affecting innocent children, Progeria is one thing that needs full attention. I once watched a documentary film on Progeria and I was emotionally devastated learning how children suffer from the disease and the complications it bring. Just the sight of their physical appearance breaks my heart. The number of medications they take everyday just to ease some of the symptoms seem extreme for kids their age. It seems unjust but cases like these challenge people to strive harder to learn more about human being. It teaches us that there are still a lot of things beyond our comprehension. All over the world, there are about 42 cases of documented cases of Progeria. There may be more. We are still unsure who will suffer from this disease next. The identification of the gene mutation that causes this lethal condition is a good start. We have to make better actions.
Works Cited
“Progeria 101/FAQ.” The Progeria Research Foudnation. 2006. Web.
“Progeria, Hutchinson Gilford.” 2007. National Organization for Rare Disorders Inc. Web.