You might have seen the movie “Paa”, which is the touching story of a young sufferer of a disorder called Progeria. The story is about a boy named Auro, who is an intelligent, witty 13-year old, but who is physically 5 times older than his real age. While this might seem a bit far-fetched, this syndrome is more real than many may believe it to be. Progeria is a reality. Also known as Hutchinson-Gilford Progeria syndrome (HGPS), this is a terrible genetic disorder which can accelerate ageing by almost 8 times. The word “Progeria” is taken from a Greek word meaning “prematurely old” and was first discovered in England by Jonathan Hutchinson in 1885. Hastings Gilford was the first to name the disorder Progeria. This rare disease affects around one or two children in every eight million and is associated with a very short lifespan. These children normally live into just up to the age of thirteen. In some cases, there are some who have lived on into their late teens and early twenties, and some have even reached their forties. There is another similar premature aging syndrome called DKC or Dyskeratosis Congenita, which is inheritable and HGPS should not be confused with this. Read on to know more about Hutchinson-Gilford Progeria syndrome.
Hutchinson-Gilford Progeria Syndrome
Causes Of Progeria
Mutations in the LMNA gene cause Progeria. This gene is responsible for making a protein called lamin A, which is important in determining the shape of each cell’s nucleus. Mutations in this gene cause the lamin A to be abnormal due to cytosine replacing thymine. Therefore the cell’s nucleus is unstable, and the cell dies prematurely. This genetic disorder is not inherited. The gene change is an occurrence that happens by chance in either the sperm or egg before conception and is not passed on in families. There are only two known cases where a healthy parent carried the LMNA mutation. One is a family in Belgium where there are two children with this disorder. Another family hails from India, with five children affected by this condition.
Symptoms Of Progeria
- Failure to thrive.
- Localized skin condition resembling scleroderma.
- Limited growth.
- Small fragile bodies like those of elderly people.
- Loss of hair.
- Prominent eyes.
- Protruding ears.
- Wrinkled skin.
- Loss of subcutaneous fat.
- Cardiovascular problems.
Treatment And Prognosis Of Progeria
Progeria is diagnosed by means of a genetic test. There are right now no effective treatments for Progeria. Most medication and therapy focuses on reducing complications associated with the disorder, such as arthritis and cardiovascular and respiratory problems. There has been some treatment attempted by making use of growth hormones. However, these have not proven effective. Since there is no known cure, very few of those affected by Progeria live longer than for thirteen years. The majority die of strokes and heart attacks. Scientists are very interested in studying Progeria more, since they believe it might reveal clues as to why people grow old and die.