Article: PROGERIA- a cureless syndrome

 PROGERIA- a cureless syndrome

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The word Progeria comes from the Greek progeros meaning 'prematurely old'. The Greek word pro means 'before', while the word geras means 'old age'. HGPS (Hutchinson-Gilford Progeria Syndrome) or Progeria is an extremely rare, fatal genetic condition.

Progeria affects children and gives them an appearance of accelerated aging. The classic type of Progeria (there are different forms) is Hutchinson-Gilford Progeria Syndrome (HGPS). Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 - both in England.

How prevalent is Progeria?

Photo of a child with Progeria
In Progeria patients, the cell nucleus has dramatically aberrant morphology (bottom, right) rather than the uniform shape typically found in healthy individuals (top, right).

The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. Scaffidi P, Gordon L, Misteli T. PLoS Biology Vol. 3/11/2005, e395

According to Hayley's Page "At present there are 53 known cases of Progeria around the world and only 2 in the UK". There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria.

Progeria appears to affect children of all races equally. Over the last 15 years the following countries have had reported cases - 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 characteristics of Progeria?

Children with Progeria are born looking healthy. When they are about 10 to 24 months old, features of accelerated aging start to appear. Signs of Progeria may include:
  • Growth failure
  • Loss of body fat
  • Loss of hair
  • Skin starts to look aged
  • Stiffness in the joints
  • Hip dislocation
  • Generalized atherosclerosis (cardio and heart disease)
  • Stroke
Although they may come from varying ethnic backgrounds, children with Progeria have a surprisingly similar appearance. Progeria patients generally die between the ages of 8 and 21 - with the average age being 13.

How are Progeria and ageing similar?
Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease. Nearly all Progeria patients die from heart disease. Heart disease is also one of the leading causes of death globally. Children with Progeria commonly experience cardiovascular events, such as hypertension (high blood pressure), stroke, angina, enlarged heart and heart failure - conditions linked to aging.

Experts say that any research into finding a cure for Progeria would probably have results which would benefit adults with diseases linked to aging.

What causes Progeria?

90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.

Progeria appears to occur without cause - it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition.

Is Progeria hereditary?

Experts do not believe that Progera is hereditary. They say it is due to a rare gene change which happens purely by chance. A non-twin sibling runs the same risk of having Progera as any other child from another family. In about 1 in every 100 cases of HGPS the syndrome is passed down to the next generation within the same family.

Diagnosis of Progeria

The health care professional will possibly suspect Progeria if the signs and symptoms are there - aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test. The Progeria Research Foundation has created a Diagnostic Testing Program.

Treatment hope

Farnesyltransferase inhibitors (FTIs), currently used for treating cancer, might reverse the nuclear structure abnormalities that are believed to cause Progeria. Studies carried out on mice with Progeria-like signs and symptoms showed that FTIs appeared to offer some improvements. Of the 13 mice treated with FTI, only one died during the 20-week UCLS study. Dr Leslie Gordon, director of the Progeria Research Foundation, said: "This study gives us pieces of information critical to our movement toward clinical trials in children with progeria."

Click Here For: Frequently Asked Questions about FTIs (Progeria Research Foundation).

Hayley Okines

Hayley's Progeria Page is dedicated to Hayley Okines, who suffers from HGPS, or Progeria. A ten-year-old Progeria child will look like an eighty-year-old - but her mind is still that of a ten-year-old.

According to Hayley's Progeria Page there is at present no cure for Progeria, but it is close.

Hayley's parents wrote "When Hayley was diagnosed with Progeria in 1999 we had never heard of it and neither did any of our friends or family. With the help of the internet we were able to build an understanding of Progeria as well as finding organisations and individuals that can help."

There is no cure for Progeria but we can treat some of the symptoms. Here are some of the remedies and medicines that we give to Hayley to make her quality of life as comfortable as possible.

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