April 16, 2004

Faulty gene for bowel disease found

Filed under: News — luisa @ 10:16 am

Reported in the Globe and Mail on Monday, April 12, 2004

Canadian discovery, made public today, will help sufferers of painful Crohn’s, researchers say

Monday, April 12, 2004 – Page A6

Canadian researchers have isolated a gene that predisposes people to Crohn’s disease, a painful disorder that strikes young people and that has sharply increased in frequency in recent years.

The discovery will have an immediate impact, allowing researchers to distinguish more readily between Crohn’s and colitis, both inflammatory bowel diseases.

“The diagnostic benefits will be immediate,” said Katherine Siminovitch, a professor of medicine at the University of Toronto. “That’s important because you really want to catch these diseases in the early stages . . . then you can start a therapy that might put patients in remission and even eradicate the disease.”

Dr. Siminovitch said, however, that development of new drugs based on this genetic finding is a long-term prospect; new treatments are probably a decade away.

The research, published in today’s edition of the medical journal Nature Genetics, is nonetheless welcomed by people suffering from Crohn’s disease.

“This is an exciting event for us,” said Michael Howarth, executive director of the Crohn’s and Colitis Foundation of Canada.

“It’s important because it’s one more piece in the puzzle. Finding the cure is not likely going to be one big event, but come about by finding out a little more every year.”

More than 150,000 Canadians suffer from inflammatory bowel disease.

It most often strikes between the ages of 15-25, though a growing number of people are being diagnosed in their late 50s.

Crohn’s and colitis affect the digestive system and cause the intestinal tissue to become inflamed, form sores and bleed easily, leading to problems eating, bloody diarrhea and excruciating pain.

Most sufferers experience periods of remission and flare-ups of the disease, often requiring long-term medication, hospitalization or surgery.

Jessica Grossman, 14, of Toronto, was diagnosed as having Crohn’s five years ago. Since then, she has suffered greatly, enduring a number of drug treatments, all of which had severe side effects but none of which worked, and then surgery to remove her colon.

“It makes me happy to know they did this research because I don’t want other people to go through what I did,” Jessica said in an interview. She is currently in remission and remarkably healthy and active.

But Jonathan Grossman, Jessica’s father, said he is excited by the new finding.

“We’re quite cognizant of the fact that Crohn’s doesn’t just go away, so we really hope this will result in new treatments,” he said.

“Anything that alleviates the suffering of people with Crohn’s would be a godsend.”

Inflammatory bowel disease does not have a single cause but is believed to result from a combination of genetic and environmental factors, such as diet and exposure to disease. (When the body fights off disease, there is inflammation, and these diseases have their roots in inflammation gone awry.) The newly isolated gene is located on Chromosome 5.

It produces a protein that sits on the cell surface and regulates how substances enter and leave the cell. In a majority of Crohn’s disease patients, this protein functions improperly and allows in toxins.

Three years ago, French researchers discovered another abnormality, on Chromosome 16, that predisposes people to Crohn’s.

Dr. Siminovitch, who is also the founding scientist of Ellipsis Biotherapeutics Corp., said a person with both genetic abnormalities has a tenfold risk of developing Crohn’s disease.

She and her fellow researchers are now working on the development of a chemical that would alter the protein to restore its normal function. That chemical would become the basis of new drugs. The problem with drugs now being used to treat Crohn’s is that they are non-specific, and as a result have a lot of side effects.

Dr. Siminovitch said the findings could also shed light on the basic causes of chronic inflammation.

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