Dr. Michael Portman

Dr. Michael Portman

Abnormal genes found in Kawasaki disease patients could pave the way for early detection and treatment of not only Kawasaki disease but also many other inflammatory diseases such as psoriasis and multiple sclerosis (MS), according to a study recently published in the International Journal of Immunogenetics.

The study, titled “Imputation of class I and II HLA loci using high-density SNPs from ImmunoChip and their associations with Kawasaki disease in family-based study,” looked at blood and saliva DNA samples provided by 112 Kawasaki disease patients and their biological parents. The goal of the study was to identify possible genetic mutations, said author Dr. Michael Portman, a Seattle Children’s Hospital cardiologist and member of the Center for Developmental Therapeutics at Seattle Children’s Research Institute.

New genetic markers

Portman, along with colleagues at the University of Alabama, used a technology called an ImmunoChip to look at a small gene region related to immune function. The technology allowed them to see the genes in a much more detailed way, helping them identify abnormalities. Future studies need to be done to analyze these new targets to see if they respond to therapy, Portman said, but the initial results were very promising.

“Identification of abnormal genes could provide biomarkers for early detection, which would allow for early treatment,” Portman said. “Early treatment is important because it is much more likely to be effective within the first 10 days of the onset of symptoms.”

Kawasaki disease is the most common cause of acquired heart disease in children, meaning it develops during childhood rather than being present at birth. It primarily affects children under the age of five. Since Kawasaki disease is an inflammatory disease, it’s reasonable to conclude from the study that patients suffering from other inflammatory diseases, such as MS, could benefit from future potential treatment, Portman said.

“This research is very exciting because the genes sequences we discovered in this population share a commonality with other inflammatory diseases,” Portman said. “If we can find treatments for Kawasaki disease, there is hope that we could apply them to a variety of other conditions like psoriasis, MS, rheumatoid arthritis and others. Our plan is to do further research and refine the results for future therapy.”

Supporting the research

Donations to KD research can be made through the KD KIDS Guild at Seattle Children’s. Families of children with Kawasaki disease are welcome to contact the Kawasaki Disease Clinic at 206-987-2015 for a referral, a second opinion or more information.

Families can also contact the Kawasaki Disease Research Program at kawasakidisease@seattlechildrens.org or 206-987-2015 for research information or participation.