Breakthrough in national diseases

April 10, 2005

A common gene variant has been identified as the risk factor behind a number of common diseases by research scientists at Karolinska Institutet and the Centre for Molecular Medicine (CMM), Stockholm, Sweden. Up to a quarter of the population could be affected.

Researchers in the fields of cardiovascular disease, rheumatism and MS have together shown that there is a common risk factor for these conditions. It is the first identified gene to link autoimmune diseases with cardiovascular diseases.

"This gene variant can therefore be one of the single largest genetic causes of complex diseases with inflammatory components," says Fredrik Piehl, associate professor at Karolinska Institutet and researcher at the CMM. "There is also a chance that other diseases are also affected by this gene variant. The discovery can now lead to more reliable diagnostics and better treatments for a great number of patients."

The gene variant was first identified in an animal model and then studied in a number of patient groups to ascertain if there was a link to human diseases. The researchers discovered that people with the variant ran a 20-40 per cent greater risk of developing rheumatism, MS or a myocardial infarction. The gene variant is also common: an estimated 20-25 per cent of the population carry it.

The discovery reveals a new area of application for statins, drugs usually taken to lower cholesterol levels. Statins have been shown to reduce activity in this gene and thus produce anti-inflammatory effects. Statins have now been tested on MS patients and have been demonstrated to be beneficial in this very way.

The disease-associated gene variant leads to a reduction in the production of a number of immune defence proteins. Some viruses and bacteria have also been observed to influence the gene in an attempt to evade the immune defence system, a strategy employed, for example, by the viruses that cause AIDS, herpes and hepatitis.

The article, entitled "MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction" will be published on the Nature Genetics website on Sunday 10 April at 1.00 p.m. (Eastern US Time).
-end-
For more information, contact
Fredrik Piehl on +46-8-517 798 40 or +46-73-775 62 18; fredrik.piehl@cmm.ki.se
Professor Tomas Olsson, on +46-8-517 762 42 or +46-70-721 35 98; tomas.olsson@cmm.ki.se

You may also contact
Annica Ericsson, scientific coordinator at the Centre for Molecular Medicine (CMM), on +46-8-517 708 78 or +46-70-484 06 25; Annica.Ericsson@cmm.ki.se and
Sabina Bossi, Press Officer at Karolinska Institutet on +46-8-524 838 95; sabina.bossi@admin.ki.seKarolinska Institutet is one of Europe's largest and most prestigious medical universities. In providing education, research and information, Karolinska Institutet contributes to the improvement of human health. It is also Karolinska Institutet that selects the winner of the Nobel Prize in Physiology or Medicine. For more information see www.ki.se.

The Centre for Molecular Medicine (CMM) foundation is a research centre that brings together some 400 employees from departments at Karolinska Institutet and clinics at Karolinska University Hospital. It is the ambition of the CMM to develop improved diagnostic, therapeutic and preventative methods for the major national diseases through multidisciplinary research into molecular mechanisms. Visit www.cmm.ki.se

Karolinska Institutet

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