http://www.iht.com/articles/2007/07/29/news/gene.php

 


Researchers identify gene causing multiple sclerosis 
By Nicholas Wade

Sunday, July 29, 2007 

Medical researchers have made a significant advance in understanding multiple 
sclerosis, a common neurological disease that causes symptoms ranging from 
muscle weakness to paralysis.

The disease is one in which the body's immune system mistakenly attacks the 
electrical insulation of nerve fibers. The cause is part genetic and part 
environmental, but researchers trying to identify the relevant genes have 
endured repeated frustration. Their approach has been to guess what genes might 
be involved and see if patients have abnormal versions.

This guesswork has produced more than 100 candidate genes in recent years, none 
of which could be confirmed except for long-known variants in the mechanism by 
which the immune system recognizes proteins that are foreign to the body.

In three articles published on line Sunday in The New England Journal of 
Medicine and Nature Genetics, three teams of researchers say they have 
identified, by separate routes, new genetic variants that contribute to the 
disease.

One team used a new advanced gene-hunting method called Whole Genome 
Association, which has racked up a string of successes with major diseases in 
the last few months. The other teams used the candidate gene approach, but 
because all three teams identified the same gene, the researchers say they are 
confident that have opened a new window into the cause and possible treatment 
of multiple sclerosis.

The gene makes a substance called the interleukin-7 receptor, a protein that 
enables cells of the immune system to respond to a control agent. Researchers 
believe the receptor is part of a biochemical pathway involving many genes, 
defects in any of which may lead to the disease.

It is now possible to explore the pathway, they say, in the hope of devising 
treatments to correct the disease-causing process.

The new research is the product of several large teams at universities in the 
United States and abroad who have coordinated their publications and pooled 
their data for analysis.

The leaders of the Whole Genome Association Study include David Hafler of the 
Brigham and Women's Hospital in Boston, Stephen Hauser of the University of 
California at San Francisco, and Jonathan Haines of the Vanderbilt University 
Medical Center in Nashville, Tennessee. The two candidate gene studies were 
headed by Haines and Jan Hillert of the Karolinska Institute in Stockholm.

"This is a very good beginning," said Kari Stefansson of Decode Genetics, a 
company based in Reykjavik, Iceland, that has spearheaded the hunt for the 
genetic causes of common diseases.

Stefansson, a neurologist, said he had studied multiple sclerosis for 20 years 
but had been unable to explore its genetic basis because there are too few 
patients in Iceland for a statistically valid analysis.

Because the course of the disease is unpredictable, clinical trials are very 
hard to conduct. "But once you have an ironclad discovery, as I believe the 
interleukin-7 receptor is, then you have the motivation to endure the expense 
of a long clinical trial," Stefansson said.


[Non-text portions of this message have been removed]

Kirim email ke