A University of Haifa professor was part of a major international research effort that recently discovered a genetic mutation associated with Crohn’s disease, in a finding that could prove to be a major step in halting the spread of inflammatory bowel disease (IBD) in America.

Currently, about 1.6 million Americans have IBD, with the two most common conditions in that category being Crohn’s disease and ulcerative colitis. As many as 70,000 new cases of IBD are diagnosed in the US each year, according to the Crohn’s and Colitis Foundation of America. Crohn’s is particularly prevalent among Ashkenazi Jews.

A new study published in the prestigious journal Science Translational Medicine showed that people who carry the mutation in the LRRK2 gene are at a high risk of developing Crohn’s. The study involved 50 researchers from around the world—including Prof. Gil Atzmon of University of Haifa—who sought to examine whether there are mutations of specific genes that are more common for Crohn’s patients than among those who do not have the disease.

“The practical significance is that we can already identify carriers of the gene at a young age and recognize that they are in a risk group and need constant monitoring and adjustment of lifestyle in the hope to lower the chance of disease outbreak,” said Atzmon.

The study could ignite the implementation of medical monitoring to enable intervention in the early stages of the development of Crohn’s. Individuals identified as carriers could then take steps such as quitting smoking and avoiding processed food in order to drastically reduce the chances of the condition’s dissemination.

Crohn’s disease—which erupts in between 3-14 people out of every 100,000 in any given year, most often in the age groups of 15-30 and 60-80—is marked by signs and symptoms including abdominal pain, diarrhea, fever, and weight loss. Complications from Crohn’s may include anemia, skin rashes, arthritis, inflammation of the eye, fatigue, bowel obstruction, and a greater risk of bowel cancer.

The causes of Crohn’s remain unclear, but may involve a combination of environmental, genetic, and immune factors. The recent study initially examined 5,700 people of Ashkenazi Jewish origin, including both Crohn’s patients and those without the disease. After the findings from the Ashkenazi group were obtained, the researchers examined the genetic association among a much larger group of some 25,000 subjects from around the world.

The findings showed that a specific mutation in the LRRK2 gene creates a statistically significant distinction between those with and without Crohn’s disease. The mutation is almost twice as prevalent among Crohn’s patients as it is among people without the condition.

This mutation in the LRRK2 gene is already known for its association with Parkinson’s disease. The presence of the mutation in LRRK2 also increases the probability of developing Parkinson’s. According to Atzmon, this is a surprising discovery because to date, researchers have not identified any similar or associated mechanisms involved in Crohn’s, a bowel disease, and Parkinson’s, a degenerative brain disease.

“One possibility is that there is no connection, and that this gene is responsible for different and unrelated functions in the body. Another possibility we examined is that the enhanced expression of an area in this gene encourages phosphorylation, influencing a cascade of events each of which leads in turn to the outbreak of either or both of these diseases,” said Atzmon.

“In the long run,” he added, “the development of a drug that can respond both to the risk of Crohn’s and the risk of Parkinson’s could be a real breakthrough that will be beneficial for large numbers of people.”

Karen Berman, CEO of American Society of the University of Haifa, described Atzmon’s role the Crohn’s study as University of Haifa’s latest groundbreaking contribution in the health field that could change lives for the better both in the US and worldwide.

“The 1.6 million Americans who suffer from IBD have long been searching for answers when it comes to the painful and confounding conditions that afflict them, including Crohn’s disease,” Berman stated. “It is gratifying that University of Haifa is at the forefront of the quest to solve the mystery around Crohn’s, as just one aspect of the University’s cutting-edge research that is helping to create a healthier world.”

(YWN Israel Desk – Jerusalem)