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The scientists found the genetic variation that apparently increased the risk of the development sirosis bilier primary, an illness otoimun that could damage the heart. This report was published in New England Journal of Medicine the edition on June 11 2009. Primary biliary Cirrhosis (PBC) was the disturbance otoimun that blocked the bile duct in the heart.
This condition most affected the woman, attacked approximately 1 from 2,500 Americans. Medical treatment at this time worked to half of the patients. According to the researchers, half of the other will need transplantation of the heart in several cases of this illness, but was learnt that the condition will come back after transplantation. "We have known was not that knew about whether the PBC cause," said the leader of the researcher Dr Katherine Siminovitch, the senior researcher in Samuel Lunenfeld Research Institute Mount Sinai Hospital in Toronto. "What we found was some genetic main the cause" of the "illness," he said.

"Around half of the patient will respond to medical treatment, but half of it again not." Half of that not the response, several will be good, but most did not become good and they must have transplantation of the heart,"." "So, we really needed new medical therapy." Siminovitch words. According to Siminovitch the findings showed that medicine that has been used to treat the illness otoimun other possibly works for PBC. "we now could begin to carry out the beginning test to see whether he will change results in this illness," he said. The matter that possibly also was new medicines that were directed (targeted drug) was able to treat this illness, he said. Moreover, the findings also enabled to predict who that the possibility of experiencing this illness and the possibility prevented him.

The matter that possibly also was new medicines that were directed (targeted drug) was able to treat this illness, he said. Moreover, the findings also enabled to predict who that the possibility of experiencing this illness and the possibility prevented him. For this study, the Siminovitch team analysed samples of blood from patients PBC and people that did not experience this condition. In the first stage this study, the researchers carried out the analysis genomewide, compared genotip from 536 PBC patients with 1,536 people who did not have this illness.

In the following stage, the researchers carried out the genetic mapping to confirm results of early and to determine the connected genetics variation was tight to PBC.

The Siminovitch group metemukan the variant from two genes, interleukin 12A (IL12A) and interleukin 12RB2 (IL12RB2), that really was related to the illness. Moreover, they confirmed that the area of the genome of antigens of human leucocytes (HLA) was linked with PBC, a fusion that was identified beforehand.

Dr Scott L. Friedman, the head of the division of the heart illness in Mount Sinai School of Medicine in New York City and the president American Association for the Study of the Disease liver (AASLD), give up these findings were the important step in understanding the PBC illness, but the interaction between genes and the trigger environment him was very complicated. "Thought by me these findings will not give the change that was significant in therapy in the short term," said Friedman. "But he opened the door for other scientific research of therapies."

Dr Nathan M. Bass, the medical director of the transplantation service of the heart to mature in University of California, San Francisco, emphasised this study was what was first from the kind to PBC "that emerged to give the light to the mechanism" of "this rare illness".

"Primary biliary cirrhosis was the annoying condition that especially affected the woman, and that took our understanding in the research for years, although the disturbance" of the "immune system regulation was suspected old," said Bass. "These study findings showed that the key" to the "problem was located between the route signal the immune regulation interleukin-12, that gave the new understanding concerning the PBC pathogenesis, and the understanding opportunity was better towards the mechanism" of the "key in the evolution and the development" of "this illness, and finally developed therapy just was based on this understanding, he said