Researchers identify genes behind dangerous childhood disease
A team of researchers examining the entire human genome have identified new genes that seem to make some children more vulnerable to the little-understood Kawasaki disease.world Updated: Jan 12, 2009 12:20 IST
A team of researchers examining the entire human genome have identified new genes that seem to make some children more vulnerable to the little-understood Kawasaki disease.
Kawasaki is an inflammatory condition in children that affects the mucus membranes, lymph nodes, walls of blood vessels, and the heart. Clinical signs include high fever, rash, and swollen hands and feet with skin peeling.
Most important, the disease causes damage to the coronary arteries in a quarter of untreated children and may increase the risk of atherosclerosis in early adulthood.
The cause of Kawasaki disease is unknown. There is no diagnostic test and current treatment fails to prevent coronary damage in at least one in 10 to 20 children. Kawasaki disease is fatal in approximately one in 1,000 children.
This is the first genetic study of an infectious disease to examine the whole genome, rather than selected genes. The study shows that genes involved in cardiovascular function and inflammation may be particularly important and some seem to function together.
The authors believe these findings could lead to new diagnostics and better treatment and may offer information about adult cardiovascular disease as well.
The international research team comprising of associate professor David Burgner, from University of Western Australia's School of Paediatrics and Child health, and researchers from the Genome Institute of Singapore, Emma Children's Hospital, The Netherlands, Imperial College London, and the University of California San Diego (UC-SD), studied naturally occurring genetic variation in almost 900 cases of Kawasaki disease from these countries.
However, the findings do not yet prove that the new genes are functionally involved. Other genetic variants may be important, especially in different ethnic groups, said an UC-SD release. The findings were published in the January issue of the open-access journal PLoS Genetics.
The authors are now planning detailed studies of the function of these genes and larger collaborative studies including east Asian populations, who are at particular risk of Kawasaki disease, with 1 in 150 Japanese children affected.