Lit.Org - a community for readers and writers Advanced Search

Average Rating

(2 votes)

RatingRated by

You must login to vote

Premature Aging Mystery Solved

The long-standing puzzle of premature aging has been cracked. Two studies have detected a defective gene in children suffering from premature aging. “It is the first piece in solving the tragic fate of such children,” said Francis Collins, director of the National Human Genome Research Institute in Bethesda, Maryland, who led one of the studies released in a recent issue of journal Nature. This disease is called Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria. According to the researchers, the discovery of the syndrome’s genetic basis will aid the development of tests and therapies for the disease.
It was first diagnosed in 1886. Since then 100 cases of HGPS have been recorded worldwide. It affects 1 in 8 million newborns worldwide. The affected children age up five to ten times faster than normal children do. They develop pinched and wrinkled skin, lose hair and grow slowly. Furthermore, they are prone to ailments like stiff joints and hip dislocation, which are common among elderly people. By the age of 13, most of them die from heart attack or stroke.
Children with HGPS suffer from severe muscle pain, said Nicolas Levy of the Timone Hospital in Marseille, France, co-author of the second study released in a recent issue of journal Science. Between them, two groups studied 21 patients. They homed in on the chromosome 1where the defective gene resides. The normal copy of the defective gene has been found to encode two proteins, lamin A and lamin C. Together with lamin B, these proteins form a wallpaper like meshwork in the inner lining of the membrane that surrounds the cell’s nucleus
The researchers from NHGRI found that 18 of the 20 patients had a substitution of a single DNA base in the defective gene. The DNA molecule has a shape like twisted staircase. The steps of the staircase are made of four bases like adenine, guanine, cytosine and thymine. The bases remain paired up with each other, adenine with thymine and guanine with cytosine. Now, a long string of base pairs form a gene which, in turn, codes for a definite protein. So, genes contain the recipe for making proteins. Removing or replacing a single base can change the recipe changing its end products, proteins.
The culprit gene for premature ageing had faced the similar fate. The LMNA gene, named after the proteins it codes, has a change from cytosine (C) to thymine (T). One of the 20 patients had guanine (G) substituted by adenine (A) in the LMNA gene. . Now, cells with defective gene produce deformed lamin proteins distorting nuclear membrane’s normal shape. The NHGRI team found that an abnormal lamin A protein had 50 amino acids missing at one end of its structure. Such proteins hinder the normal cell growth. And the cells die prematurely, impairing the tissues’ ability to regenerate. In every case, the parents were normal indicating that the alteration of a single base was a new mutation in the child.
To study the effect of abnormal lamin A protein on cells, the NHGRI team used fluorescent antibodies to track lamin A in skin cells taken from progeria patients, as well as unaffected people. The study showed that about half of the cells from progeria patients had misshapen nuclear membranes. Unaffected people, on the other hand, had one per cent cells containing misshapen nuclear membranes. “This instability of the nuclear membrane may pose major problems for tissues subjected to intense physical stress -–such as those found in the cardiovascular and musculoskeletal systems, which are severely damaged in progeria,” said Maria Eriksson, a post doctoral fellow in Collins’s lab and a member of the NGHRI’s team. “Initially, we could hardly believe that such a small change in gene was the culprit. How could this bland-looking mutation have such terrible consequences in the body?”
Thanks to Human Genome Project (HGP), which opened up such possibilities of exploring the molecular roots of diseases. “Free and unrestricted access to human genome sequence is greatly speeding the pace of disease gene discovery,” said Collins. “Finding the gene for progeria would have impossible without the tools provided by HGP.”
The promising aspect of the new findings is the prospect of a therapy for progeria patients. In fact, researchers plan to study the possibility that statin or other drugs known to inhibit a step in protein processing might reduce the production of abnormal lamin proteins in progeria patients. This new discovery may also uncover many secrets of normal ageing process. This is why the researchers plan to have a peek at the LMNA genes of people who are exceptionally long-lived in the hope of finding any variants of the gene associated with longevity. But, it is still long way to go before affected children can reap benefit from this discovery. Collins nicely summed up the current situation. He said, “It is impossible to predict how soon our findings will translate into treatments for children suffering from progeria. Unfortunately, as we have witnessed with other genetic discoveries, the road from the lab to clinic is not always swift or smooth.”

Author can be contacted via e-mail:

Biplab Das

Related Items


The following comments are for "Premature Aging Mystery Solved"
by Rakesh

They found the culprit!
This is great, they've found out what causes premature-aging! I read about it somewhere last year. I didn't think they would spot the culprit so fast! Now that we've identified the problem, does that mean we might in the future be able to speed up our growth, or slow it down? That would be neat. Interesting topic & article!

( Posted by: Cryptic Rapture [Member] On: November 26, 2003 )

Add Your Comment

You Must be a member to post comments and ratings. If you are NOT already a member, signup now it only takes a few seconds!

All Fields are required

Commenting Guidelines:
  • All comments must be about the writing. Non-related comments will be deleted.
  • Flaming, derogatory or messages attacking other members well be deleted.
  • Adult/Sexual comments or messages will be deleted.
  • All subjects MUST be PG. No cursing in subjects.
  • All comments must follow the sites posting guidelines.
The purpose of commenting on Lit.Org is to help writers improve their writing. Please post constructive feedback to help the author improve their work.