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Frequently Asked Questions

What is the cause of Progeria?

The Progeria Research Foundation
HGPS is caused by a mutation in the gene called LMNA (pronounced, lamin – a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria. PRF was the driving force behind finding the gene responsible for Progeria.

What is Progeria?

The Progeria Research Foundation
Hutchinson-Gilford Progeria Syndrome (“Progeria”, or “HGPS”) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means "prematurely old." While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr.

How common is Progeria?

The Progeria Research Foundation
Progeria has a reported incidence of about 1 in 4 - 8 million newborns. It affects both sexes equally and all races. In the past 15 years, children with Progeria have been reported 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.

What are the features of Progeria?

The Progeria Research Foundation
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds.

How is Progeria diagnosed?

The Progeria Research Foundation
Now that the gene mutation has been identified, The Progeria Research Foundation has created a Diagnostics Testing Program. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of the child’s blood will be tested for the Progeria gene. For the first time ever, there is a definitive, scientific way to diagnose the children.

What does Progeria have to do with aging?

The Progeria Research Foundation
Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, one of the leading causes of death worldwide.+ As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging.

Is Progeria passed down from parent to child?

The Progeria Research Foundation
HGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of “progeroid” syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a “sporadic autosomal dominant” mutation.

What can you do to help children with Progeria?

The Progeria Research Foundation
Make a financial contribution. Donations are needed to continue the vital work of PRF. No donation is too little or too big – every dollar counts in our fight for a cure! Donate your time. Volunteers are also important to PRF’s success.

What is PRF doing to help children with Progeria?

The Progeria Research Foundation
The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria. PRF also has its own Cell & Tissue Bank that provides the biological materials researchers need to conduct their experiments. The PRF Cell & Tissue Bank was instrumental in the recent discovery of the Progeria gene. Cell lines from the PRF Cell Bank were essential to the experiments that led to the Progeria gene discovery.

I heard that the Progeria gene had been discovered, where can I find out more about this?

The Progeria Research Foundation
On April 16, 2003, it was announced that the gene for Progeria had been discovered, and PRF played a major role in that discovery! Go to Progeria Gene Discovered for more information. Also, here are some cites to scientific articles on the gene mutation: quot;Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome", Vol. 423, May 15, 2003, Nature. quot;Cause of Progeria's Premature Aging Found; expected to Provide Insight into Normal Aging Process", Vol.

Is Progeria a dominant or recessive disease?

The Progeria Research Foundation
Unfortunately, we cannot provide interviews and we do not provide the contact information of others. However, our Medical Director has helped create this Q and A and all other information on Progeria that appears on this site, so perhaps that is sufficient to satisfy the interview requirement for your report.

How many children in the world are diagnosed with Progeria?

The Progeria Research Foundation
of February 2006, there are 42 children living in 20 different countries who have been diagnosed with Progeria; however we believe that there are more children who have this condition, but have not yet been diagnosed.

What is it like for a child to live with Progeria?

The Progeria Research Foundation
John Tackett, our first youth Ambassador, was interviewed about what it's like to live with Progeria and other questions. You can find this information on our web site for PRF Spokespeople and at John Tacket Interview. Not at all. Children with Progeria are intelligent and full of energy just like other kids their age.

What would you like people to know about Progeria now?

The Progeria Research Foundation
While Progeria is an extremely rare disease - known to currently affect only 42 children worldwide -all children with Progeria die of severe premature atherosclerosis (heart disease). When you help children with Progeria, you are helping to save the lives of children with a 100% fatal disease.

What is the cause of vitiligo?

Vitiligo Frequently Asked Questions FAQ.
The precise cause of Vitiligo is not known. A combination of genetic, immunologic and neurogenic factors is of major importance in most cases. Many people report pigment loss shortly after a severe sunburn. Others relate the onset of Vitiligo to emotional trauma associated with an accident, death in the family, divorce, etc. Early graying of hair is part of Vitiligo. Patients with Vitiligo appear to have normal pigment cells.

What might cause tinnitus?

Welcome to Spokane Ear, Nose&Throat Clinic, P.S. Surgery...
There are various causes including a plug of wax, allergy, ear infection, circulatory problems, certain medications, and prolonged exposure to loud noise.

Is there one cause of depression?

Depression frequently asked questions (FAQ)
Just as there is no single universal cure for depression, there is no single cause either. The medical community agrees that there are potentially several causes that may result in depression. In the most general terms, depression is thought to be caused by a combination of physiological, social and genetic factors.

What is the cause of SARS?

CDC | Frequently Asked Questions About SARS
SARS is caused by a previously unrecognized coronavirus, called SARS-associated coronavirus (SARS-CoV). It is possible that other infectious agents might have a role in some cases of SARS.

What is the cause of appendicitis?

Laparoscopy Hospital - Frequently asked questions about lapa...
The cause of appendicitis is usually unknown. It may occur after a viral infection in the digestive tract or when the opening connecting the large intestine and appendix is blocked. The inflammation can cause infection, a blood clot, or rupture of the appendix. Because of the risk of rupture, appendicitis is considered an emergency. Anyone with symptoms needs to see a doctor immediately.
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