Statistical Gene Analysis Yields Possible Target For Treating MS

A recent statistical gene study among more than 7,000 people have yielded the discovery of a certain amino acid that is seen to be a major risk factor for multiple sclerosis.

Researchers from the Rockefeller University along with colleagues from the University of Oxford in England and the University of British Columbia in Canada found a binding pocket in a previously targeted gene that may be considered a possible prospect for developing new drug treatments for the autoimmune disease that affects over 2.5 million people worldwide.

The statistical analysis made by biostatistician Knut M. Wittkowski from the Rockefeller’s Center for Clinical and Translational Science involved analyzing a huge database that contained disease-relevant genes coming from 13,000 individuals who either have multiple sclerosis or related to people who do.

Wittkowski and other colleagues tried to focus on a certain gene called HLA-DRB1 which was previously identified a year ago as the single most important genetic risk factor for MS. The said gene is part of a large cluster of complex genes that evolve in order to help the immune system adapt and respond to foreign substances that it has never encountered before.

Despite the complexity of studying the said gene, Wittkowski analyzed 93 locations of the gene with their genetic variations and was able to find a single amino acid in the protein that the gene encodes. Known as amino acid 13, the said amino acid can be considered as a possible indicator of a person’s susceptibility to MS.

It is located at the center of a pocket in the HLA-DRB1 molecule that helps identify an invading pathogen to the immune cells in order to destroy it. The researchers believe that a certain mutation of this amino acid may cause the HLA-DRB1 molecule to present healthy tissue for immune cells to attack, one of the ways that multiple sclerosis damages the body.

"We have identified the most important part of the gene for MS risk," adds Sreeram Ramagopalan, a postdoctoral research fellow at Oxford’s Wellcome Trust Center for Human Genetics, who collaborated with Wittkowski. "And it looks plausible. Amino acid 13 is part of a piece of the molecule that presents peptides to trigger the immune reaction."

The analysis of Wittkowski and his colleagues has provided the research world with another possible means to target multiple sclerosis, a disease so complex that until this day does not have a cure. A study is underway to further detail the role of amino acid 13 plays on multiple sclerosis. This may someday provide a new target for developing new drugs to combat the debilitating disease.

Source: Ramagopalan et al. An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene. BMC Medical Genetics, 2009; 10 (1): 10 DOI: 10.1186/1471-2350-10-10

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