Genetic breakthrough for MS
MS can lead to partial or complete paralysis
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Monday, 30, Jul 2007 12:04
Two genes that increase the risk of developing multiple sclerosis (MS) have been discovered by scientists, it is reported today.
The discovery is said to have important implications for understanding how genes, immunity and the environment work together to cause MS and could potentially lead to new treatments.
MS is a disease of the central nervous system with symptoms from mild muscle weakness to partial or complete paralysis.
A pair of studies scanned DNA samples from more than 20,000 MS patients and unaffected people in the US and Europe for genetic variations known as single nucleotide polymorphisms (SNPs).
The researchers found a link between MS and SNPs in two genes that encode interleukin receptors – proteins on the surface of immune cells.
This discovery is said to be the first to conclusively link genes to MS in 20 years; in the 1970s scientists found that human leukocyte antigens (HLA) account for some of this genetic susceptibility.
"These are the first non-HLA genes to be unequivocally associated with MS," said Dr Maraget Pericak-Vance, director of the Miami Institute for Human Genomics at the University of Miami.
"They give us a new way of looking at the biology of the disease, and could be targets for therapeutic development."
Commenting on the findings, Dr John Richert, executive vice president of research and clinical programmes for the National MS Society, said: "One of the most encouraging outcomes of this current genomic study is that it is helping us to pinpoint genes that may elevate the risk of developing MS and other autoimmune diseases, pointing the way to new areas of research and new therapeutic targets to both treat and eventually prevent these diseases."
Dr Lee Dunster, head of research and information at the MS Society, added: "One of the great unknowns about MS is what causes it and this looks like a welcome breakthrough in getting to grips with the genetics behind the disease. People with MS often worry about what caused it, and particularly whether it will affect their children, so a better understanding of the role of certain genes is good news.
"These latest findings will be of great interest to researchers trying to develop future treatments."
All of the data from the studies is to be made publicly available for future investigations.
Reports on the findings are published in the journal Nature Genetics and the New England Journal of Medicine.