Aussie and Kiwi researchers make double MS genetic discovery

15 June, 2009

Australian and New Zealand researchers have accelerated research into Multiple Sclerosis by discovering two new locations of genes which will help to unravel the causes of MS and other autoimmune disease. Their findings will be published today in the prestigious journal Nature Genetics.

“For decades the cause of MS has remained a mystery. This discovery reveals important new insights into the genetic susceptibility to the disease”, says Prof Trevor Kilpatrick, Director for Neurosciences at the University of Melbourne, who with Dr Justin Rubio of Florey Neurosciences Institutes coordinated the international study.

“The newly discovered gene locations on chromosomes 12 and 20, offer very promising targets which indicate susceptibility to MS,” says Prof Kilpatrick.

“They also reveal a link between genetic susceptibility to MS and other autoimmune diseases including Type 1 Diabetes, Rheumatoid Arthritis and Graves’ Disease and 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 MS susceptibility”, explains Prof 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 utilised the MS Research Australia Gene Bank and involved scanning the DNA of 1,618 people with MS and 3,413 people without MS (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 MS. This work could provide insight into the development of novel therapeutics,” says Dr Rubio.

MS affects some 2.5 million people worldwide and almost 20,000 in Australia. It is a devastating autoimmune disease as it occurs at the prime of life and mostly in young women.

“This Australasian team is competing on a global scale to unravel the complex genetics of MS. This is a significant discovery”, says Professor Jim Wiley, Chairman of the ANZgene consortium.

Mr Jeremy Wright, Executive Director of MS Research Australia, says: “We are thrilled to have been involved with this study. It has been a $1.5 million project so far and we are grateful for contributions from the John T Reid Charitable Trusts, the Trish MS Research Foundation, individual donors and an Australian Research Council linkage grant, for making this possible.

This research is central to our mission of accelerating MS research in Australia. We look forward to the next steps, when we can identify susceptibility in individuals and potentially prevent the onset of the disease”, Wright added.

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