Progeria: A Rapid Aging Disease in Children

Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process. ~ Progeria Research Foundation

There are only 63 children in 30 different countries living with Progeria today. There is no cure for this genetic condition and most patients suffer from strokes or heart attacks due to the rapid onset of heart disease before their tenth birthdays. But despite their health hurdles, these children are intelligent, intellectual and full of life.

What is Progeria?

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic condition that causes accelerated aging in children. According to the Progeria Research Foundation (PRF), there is an incidence of about 1 in 4 to million newborns. It affects both sexes equally with reported cases worldwide. Another form of Progeria is Werner's syndrome, also known as 'adult progeria', which does not have an onset until the late teen years, with a life span into the 40's and 50's.

Although these children appear 'normal' at birth, the signs of premature aging begin to show at around 18 to 24 months and 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 most fascinating point of interest about children with Progeria is they all have a remarkably similar appearance, despite differing ethnic backgrounds.

Progeria and Aging

Due to the very nature of this disease, children with Progeria are vulnerable to all of the same conditions as regular aging individuals in their 60's and 70's, most of a concern being premature progressive heart disease. With that vulnerability, these children often suffer with 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. Children with Progeria die of atherosclerosis (heart disease) at an average age of thirteen years (with a range of about 8 - 21 years).

Causes

A group of leading scientists from The PRF's Genetics Consortium were able to isolate the Progeria gene in October 2002. In April of 2003, the PRF announced that Progeria is caused by a mutation of the gene LMNA, or Lamin A. This protein seems to be the 'scaffolding' that holds the nucleus of a cell together. Researchers believe that in patients with Progeria, the Lamin A protein is defective, which makes the nucleus unstable and it is this cellular instability that seems to lead to the process of premature aging in Progeria.

Progeria is very rarely passed down in families (1 in 400 million). It is simply a 'mistake' in the genetic code that occurs during cell mutation, which means any child in a family would have equal chance of developing this disease.

Research and Treatment

For the first time ever, there is a definitive, scientific way to diagnose these children. The PRF has created a Diagnostics Testing Program that can look at the specific genetic change, or mutation, in the Progeria gene leading to HGPS. After a thorough physical evaluation, a sample of the child's blood is tested for the Progeria gene.

As with other aging patients, treatments for patients with Progeria seem to be caring for the conditions related to the aging process as they occur, including close monitoring of symptoms directly related to heart disease. Researchers published studies supporting a drug called FTIs (Farnesyltransferase inhibitors) that has shown to reverse the dramatic nuclear structure abnormalities that are the hallmark of cells from children with Progeria. For more information on this discovery and treatment, see the Progeria Research Foundation's Website.

Prognosis

Unfortunately, there is no cure for Progeria with patients living only into their teens at most. But the discovery of the gene mutation as well as current research being conducted gives hope of finding a needed cure. The most incredible part is that by studying and researching these incredible children, we will also have answers on how to help and treat the regular aging population much more effectively.

Dr. Francis Collins, Director of the National Human Genome Research Institute (responsible for mapping the human genome) and the senior author on the report presented on the discovery of the gene mutation is quoted on the PRF Website as saying, "Isolating the Progeria gene is a major achievement for the medical research community. The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease."

As with any condition, we need to look beyond the surface to the underlying causes. That's how we raise awareness, which leads to understanding; and that's very powerful.

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Sources:

The Progeria Research Foundation - www.progeriaresearch.org