Researchers Discover 2 New Genes for Inflammatory Bowel Disease in Kids

US researchers have discovered a pair of genesdefine that perk up the chances of developing inflammatory bowel disease also known as IBD in childhood.

Inflammatory bowel disease (IBD) is a painful and chronic inflammatory disease of the intestine and includes a) ulcerative colitis also known as regional enteritis which generally affects top layers of the lining of the large intestinedefine, also called the colondefine and b) Crohn's disease affects any part of the digestive system from mouth to anus. People with IBD are known to be at increased risk of developing colon cancerdefine.

According to the Centers for Disease Control and Prevention (CDC) nearly 1.4 million people in United States alone are affected by IBD. Approximately 100,000 children younger than 18 years have IBD. The disease has even been found in infants as young as 18 months. About 30,000 new cases of the disease are diagnosed every year.

Lead author of the study, Hakon Hakonarson, director of the Center for Applied Genomics at The Children's Hospital, Philadelphia, said in the news release, "As we better understand the complex gene interactions in IBD, we may be able to diagnose patients by their genetic profile to predict who will better respond to anti-TNF drugs.”

Hakonarson and team analyzed the DNA samples of 1,000 people of European ancestry suffering from childhood inflammatory bowel disease. The scientists compared around 600,000 genetic markers spanning the genome of people suffering from IBD with the same markers to those from 4,250 healthy candidates. They were able to find twin new genesdefine associated with childhood onset IBD, one on chromosome 20 and the other on chromosome 21 respectively.

The first gene variant discovered was PSMG1 (chromosome 21) and another one was TNFRSF6B also called DCR3 (chromosome 20). Hakonarson says that nothing much is known about PSMG1 which is known as chaperones (generally capture and neutralize molecules in the body) but the second gene is more important as they already known this gene participate in the biological pathway of a protein called tumor necrosis factor (TNF), which is a cytokine, a chemical messenger that plays a key role in the harmful inflammation characteristic of IBD.

The scientists say that further studies will be able to find that these new gene variants are also related to disease which appears in later in life. And also their research will lead to better therapies for people suffering from chronic IBD.

Co-first author Robert N. Baldassano, director of the Center for Pediatric Inflammatory Bowel Disease at The Children's Hospital in Philadelphia, added, "Although the gene variants we found may have a stronger signal in pediatric IBD than in adult-onset IBD, we do not believe them to be limited to varieties of the disease that begin in childhood."

At present, IBD is treated with anti-TNF (tumor necrosis factor) drugs such as infliximab, adalimumab and certolizumab. The anti-TNF drugs are currently given as injections or intravenously, said Robert Baldassano. Adding further he said, “If better knowledge of the disease pathway enables pharmaceutical companies to develop anti-TNF drugs in pill form, the medications will be easier to deliver as well as more customized to each patient.”

The study appears in the Aug. 31 online edition of Nature Genetics.

Childhood onset IBD can cause symptoms ranging from mild to severe. Symptoms include, diarrhea, rectal bleeding, large weight loss over a short period of time, fatigue, abdominal paindefine and cramps that occurs again and again and delayed growth and development.

And the most common symptom of ulcerative colitis is loose and bloody stools, if a person has ulcers. Few anti-inflammatory medications may also slow growth and cause other side effects, such as weight gain and a puffy face. Right now there is no cure for Crohn's disease, but surgery often helps by removing parts of the bowel that are affected.

Netherlands investigator said in a report published this month that the diagnosis of colorectal cancer is delayed or missed in a substantial number of people suffering from inflammatory bowel disease (IBD) if surveillance colonoscopy is conducted strictly according to official guidelines.

Another long term Italian study published recently in the European Journal of Pediatrics found that the number of children affected by IBD has increased over the years.