The common gene variant has been identified as a risk factor behind a number of common diseases such as cardiovascular disease, rheumatism and multiple sclerosis (MS).
Fredrik Piehl, associate professor at the Karolinska Institute and researcher at the CMM, says the gene variant could be one of the single largest genetic causes of complex diseases with inflammatory components and there is a possibility that other diseases are also affected by it. He says the discovery could lead to more reliable diagnostics and better treatments for a great number of patients.
The scientists reveal that the gene variant was first identified in an animal model and later studied in a number of patient groups to determine if there is a link to human diseases. They discovered that people with the variant run a 20 to 40 per cent greater risk of developing rheumatism, MS or a myocardial infarction. The gene variant is common with an estimated 20 to 25 per cent of the population carrying it.
The gene variant when it is present in the body, leads to a reduction in the production of a number of immune defence proteins. The scientists explain that some viruses and bacteria have also been seen to influence the gene in an attempt to evade the immune defence system, a strategy employed by the viruses that cause AIDS, herpes and hepatitis.
Interestingly, the discovery has revealed a new area of application for statins which have been shown to reduce activity in this gene and thus produce anti-inflammatory effects. Statins are drugs usually taken to lower cholesterol levels. Statins have now been tested on MS patients and have been demonstrated to be beneficial in this very way, concludes Professor Piehl.
The article is published on the Nature Genetics website.
In launching its Huntington's Disease program, Sirna Therapeutics formed a research collaboration with Dr. Beverly Davidson, Roy J. Carver Professor in Internal Medicine, at the University of Iowa. As part of the agreement, Sirna in-licensed key patents from the University of Iowa Research Foundation covering neurological disease targets using RNAi technology, including those relating to Huntington's Disease. In January 2005, Sirna also formed a collaboration with Targeted Genetics Corporation (NASDAQ:TGEN) , the leader in AAV vector delivery to combine Sirna's RNAi expertise with a cutting edge delivery technology. Sirna and Targeted Genetics will co-develop an AAV vector-based treatment for Huntington's Disease, sharing development costs and revenues.
Howard Robin, President and Chief Executive Officer of Sirna stated, "This is truly a breakthrough for Huntington's Disease research. Huntington's Disease is a devastating ailment that affects thousands of people for which there is currently no treatment. With this research, Sirna and its partners have taken a major step toward developing an siRNA therapeutic for HD. We are proud to be part of such a landmark study and to collaborate with Dr. Davidson and the University of Iowa."
Dr. Steven Hersch, Associate Professor of Neurology at Massachusetts General Hospital and Harvard Medical School, and chairman of Sirna's Clinical Advisory Board for neurodegeneration commented, "I am highly encouraged by Dr. Davidson's research, as it demonstrates that an siRNA is able to positively impact Huntington's Disease by reducing the disease-causing HD protein production in an animal model. Although much preclinical work remains necessary, the proof of concept threshold has now been crossed that validates siRNA as a potentially potent approach to treating Huntington's disease."
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