Researchers Make Multiple Sclerosis Genetic Discovery
14 June 2009
Australian and New Zealand researchers have discovered two new locations of genes in multiple sclerosis which could help to unravel the causes of the disease and other autoimmune diseases.
Multiple sclerosis is an autoimmune disease that affects some 2.5 million people worldwide and almost 20,000 in Australia. Multiple sclerosis is a devastating disease as it occurs at the prime of life and mostly in young Caucasian women.
"For decades the cause of multiple sclerosis has remained a mystery. This discovery reveals important new insights into the genetic susceptibility to the disease, "says Professor Trevor Kilpatrick, who with Dr Justin Rubio coordinated the international study.
"The newly discovered gene locations in chromosomes 12 and 20, offer very promising targets which indicate susceptibility to multiple sclerosis," says Professor Kilpatrick.
"They also reveal a link between genetic susceptibility to multiple sclerosis and other autoimmune diseases including type 1 diabetes, rheumatoid arthritis and Graves' disease and also the potential involvement of Vitamin D metabolism in the risk of developing these diseases."
"These results are like the key in the door, leading us to where to look for multiple sclerosis susceptibility," explains Professor Trevor Kilpatrick.
The research was conducted by members of the ANZgene consortium, more than 40 investigators from 11 institutions in Australia and New Zealand.
The three year study utilized the Multiple Sclerosis Research Australia (MSRA) Gene Bank and involved scanning the DNA of 1,618 people with multiple sclerosis and 3,413 people without multiple sclerosis (controls).
Using a genome-wide association scan (GWAS), researchers scanned the entire human genome in broad brushstrokes; looking at genetic landmarks in the genome and then progressively narrowing down their search to individual genes.
Dr Justin Rubio who coordinated the GWAS says these genetic discoveries are a major advance for the field.
"We expect that within one to two years we will be able to fine map these new regions and identify the genetic changes that underpin these findings," says Dr Rubio.
"Our next steps include studying how changes in these target genes might influence the development of multiple sclerosis. This work could provide insight into the development of novel therapeutics," says Dr Rubio.
"This Australasian team is competing on a global scale to unravel the complex genetics of multiple sclerosis. This is a significant discovery" says Professor Jim Wiley, Chairman of the ANZGene consortium.
Mr Jeremy Wright, Executive Director of Multiple Sclerosis Research Australia, says: "We are thrilled to have been funding this study with the Australian Research Council and helping in its coordination. It is central to our mission of accelerating multiple sclerosis research to identify susceptibility in individuals so that we can potentially prevent the onset of the disease, and develop better ways to treat it".
References:
1. Trevor Kilpatrick, et al. University of Melbourne.
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