August 15, 2011 By Jason Bardi
Multiple sclerosis (MS) is a complex disease that is not caused by a single gene or environmental factor. Rather, many overlapping causes contribute to the disease, as shown here. These may include the action of various genes and exposure to chemicals, pathogens, and other external triggers. The study of epigenetic and other regulatory mechanisms linked to MS susceptibility is only beginning to emerge. Credit: J.Oksenberg/UCSF.
Genetic secrets of multiple sclerosis may be buried in 50 “hot spots” in the human genome, which were just uncovered by a consortium of more than 240 scientists in 23 countries, including researchers at the University of California, San Francisco (UCSF).
Led by the International Multiple Sclerosis Genetics Consortium and the Wellcome Trust Case Control Consortium in the U.K., the results will immediately help to frame the genetics of multiple sclerosis by allowing scientists to identify many of the genes involved and determine how they contribute to this complex disease.
“We have completed a large part of the genetic puzzle of the disease,” said Jorge Oksenberg, PhD, who is the G.A. Zimmermann Endowed Chair in Neurology at UCSF and a co-author on the study.
Longer term, the findings will guide future efforts to assess an individual’s risk of developing multiple sclerosis and to develop new drugs for treating this complex disease, which affects some 2.5 million people worldwide and 400,000 in the United States.
“We all share a sense of great optimism that these results will set the stage for a better understanding of how multiple sclerosis begins and for the development of better means to treat, and maybe even prevent, the disease in the future,” said Stephen Hauser, MD, the Robert A. Fishman Distinguished Professor and chair of the Department of Neurology who was the senior author from UCSF on the study.
Described in the Aug. 11, 2011 issue of the journal Nature, the study compares genetic material from tens of thousands of individuals in the United States and Europe, including 10,000 people with multiple sclerosis.
It identified 50 distinct genetic loci, or regions of DNA sequences, that “contribute” to multiple sclerosis. These loci do not necessarily indicate specific genes that cause the disease but rather locations on the genome where there may be genes and genetic variations that influence someone’s risk of developing the disease.
Follow-up studies at UCSF and elsewhere will attempt to identify the exact genes involved and determine the how they contribute to the disease.
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