“Growin’ Up Too Fast – Hutchinson-Gilford progeria syndrome” by Laura Glenn

Growin’ Up Too Fast – Hutchinson-Gilford progeria syndrome

By Laura Glenn

 

We often hear parents complain that their children are growing old too fast and before they know it their babies are fully grown adults. But sometimes this really is a cause for concern; some newborn babies appear to age at a phenomenal rate and have the characteristics of an elderly person when they are just a few months old. This is the rare case of Hutchinson-Gilford progeria syndrome, abbreviated HGPS. This genetic disease is diagnosed in about every 1 of 4 million newborns worldwide.

 

The phenotypic (or observable) characteristic of the disorder is a dramatic and rapid aging beginning in childhood. Typically at birth and in the early stages of growth the child will appear normal. However within a year the child will noticeably fail to grow normally. Soon they are much shorter and smaller than children of their age. They develop distinct facial features including a small face and jaw, a pinched nose, prominent eyes and baldness. They also have aged looking skin and a loss of fat under their skin. There is however no interference with mental development associated with the disease or any problems with motor skills. Children affected with the disorder may also experience conditions common to elderly people such as stiffness of joints and hip dislocations. But the major health problem caused by progeria is intense hardening of the arteries. Because of this, children with the disease commonly have a heart attack or stroke and most die before the age of 13. Some undergo coronary bypass surgery to try and correct the complications associated with the disease but there is currently no treatment or cure for HGPS.

 

The disease is caused by a small point mutation on a single gene known as LMNA. Almost all cases are caused by the substitution of only one base pair out of the approximate 25 000 DNA base pairs that compose the LMNA gene. This gene codes for the protein lamin A, which is important to determine the shape of a cell’s nucleus. It is vital in providing support to the nucleus’ inner membrane. The mutation in the LMNA gene causes an abnormal form of the lamin A protein. That malformed protein makes the inner cell membrane unstable and little by little damages the nucleus; this makes cells more prone to die prematurely. Researchers are still trying to figure out how exactly this leads to the phenotypes associated with progeria.

 

Hutchinson-Gilford progeria syndrome is an autosomal dominant condition. This means that only one copy of the malformed gene in each cell is necessary to cause the disorder. HGPS generally happens without a cause. The disease is known to result from new genetic mutations of the LMNA gene and in families with no history of the rare disorder. It is caused by a new mutation during cell division early in the child’s life. There is however one unique case in which a healthy parent carried the LMNA mutation in his or her sperm or egg cells. In this family, five children were born with HGPS. Affected children do not live long enough to have children themselves so although the condition is dominant it is never passed on this way. The transmission of the disorder is continually being studied.

 

There have only been about 100 reported cases of HGPS since it was described by Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1904. There are currently 48 documented cases of HGPS in the world making it a very rare and unusual condition indeed.

 

The study of genetics has vastly advanced our understanding of disorders such as progeria. It used to be that doctors could only diagnose a child with the disease by observable traits, such as their skin and weight. But thanks to genetic sequencing, the LMNA gene mutation can be spotted early on in a child’s life. It is caused by the change in just one letter of the billions that make up the human genome. Once found, it means earlier, more correct diagnosis and more prompt medical intervention.

 

References:

 

http://www.genome.gov/11007255

http://www.nlm.nih.gov/medlineplus/ency/article/001657.htm

http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176670

http://www.progeriaresearch.org/

http://www.progeria.be/informatie_EN.php

 

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~ by shireef on March 8, 2009.

4 Responses to ““Growin’ Up Too Fast – Hutchinson-Gilford progeria syndrome” by Laura Glenn”

  1. my mom was watching a show about this disease yesterday. i feel soo bad for these children I wish that i could do something to help them. so they have a chance to have a long happy life. like most do. i hope they do find a cure for this one day. and iv’e heard that the day will be coming soon. i just wish all you people the best luck in the world and i will be hoping and praying for you guys. this really touched my heart.

  2. i feel terrible and wish i can help in any form …even the parents who find out eventually that their beloved child is having progeria must be disheartened and shattered. may GOD find a way to cure this disease and no one in future may become the prey of it !! this is all i can myself wish of as i have turned 14 last month. i am greatly touched

  3. Here is some additional information about the “genetics” of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Hutchinson_Gilford_Progeria_Syndrome/190. I hope it helps. Thanks, AccessDNA

  4. Hi, I feel so bad to see dying children and I feel terrible because I can’t do anything. I’ll pray the best for the family and the kids, hope there will be a cure and I hope God has meaningful thing to show us.

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