Genetic link to childhood bowel disease | Action Medical Research

Touching Lives - October 2009

Genetic link to childhood bowel disease

Childhood inflammatory bowel disease is on the increase and a team of researchers based in Edinburgh has been looking at the genetic links that make some youngsters more prone to painful conditions such as Crohn’s disease and ulcerative colitis.

Dr Johan Van Limbergen and his team at the University of Edinburgh and Western General Hospital, Edinburgh, have completed a three-year study into genetic factors that may make some youngsters more likely to develop inflammatory bowel disease (IBD) than others.

According to Dr Van Limbergen, the incidence of IBD in Scottish children is among the highest in the world but many northern European countries are currently experiencing a rise in patient numbers.

The statistics certainly give cause for concern - it is estimated that one in 400 people in the UK suffers from IBD, which falls into two main types; Crohn’s disease can affect all parts of the digestive system, while ulcerative colitis is concentrated in the large intestine. Thousands of new cases are diagnosed each year in the UK.

Blighted development

Symptoms of IBD include severe abdominal pain, diarrhoea, fatigue and dramatic weight loss and these can be especially severe in young people, impacting on both their physical development and their psychological well being.

Because treatment in cases of Crohn’s disease can involve surgery, young sufferers can be forced to spend time in hospital and may miss out on their education, putting them at a considerable disadvantage as they get older.

Another problem is that the drugs commonly used to treat IBD can reduce the body’s ability to fight off other infections, and not surprisingly the condition can put a considerable strain on the families of those affected.

Action Medical Research gave a £164,666 grant to Dr Van Limbergen in 2005 and the results of his study have been encouraging.

Samples were collected from a large number of children with IBD and their parents. Some of those involved were recently diagnosed sufferers, while others had more long-established problems. From the samples, DNA was extracted in the laboratory and the ‘suspect’ genes studied to try to identify how certain variations in some genes can predispose a person to IBD.

It was already known that the genetic causes of IBD are complex and that environmental factors can also play a crucial part in the development of the disease, but during their work, the team looked specifically for variations in four of the genes thought to play a part in causing IBD. One of the genes they studied in detail did show changes a link to the development of IBD. 

Genetic changes

Though the research and identification of these genetic variations is at an early stage, ultimately it could lead to the development of new treatments for IBD.

The new information will help other researchers looking at causes of IBD and additional findings about the clinical features characterising IBD in children could help clinicians treating those who suffer. It may also shed light on some interesting associations; Dr Van Limbergen’s work showed that a history of asthma could be linked to developing IBD in childhood.

Dr Van Limbergen said: “It is too early to say that new treatments for these conditions are on the horizon, but we are making important progress and Action Medical Research should be very proud of what is has enabled us to do through this work. It has given us some important building blocks for the future.”

The work funded by Action Medical Research will be linked to other studies around the world and the Edinburgh-based team has collaborated with researchers in the collection of DNA samples from a large number of children and their parents. The International Paediatric IBD genetics consortium has already made use of this collection.

Collaboration with hospitals

Dr Van Limbergen, who has recently taken a prestigious clinical fellowship in paediatric gastroenterology which will allow him to build on his work, said: “Because of this element of collaboration with other hospitals and research teams, this work will continue into the future. Without the support of Action Medical Research it would not have been possible.

“We are still a long way from developing new drug treatments and there are still many hurdles to cross before we get from statistics to the development of new therapies, but we have made an important start in understanding the part played by genetics in this distressing and often life-long condition.”

Thank you to The Stafford Trust, Hazel M Wood and other trusts who wish to remain anonymous for supporting this work.

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