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Gene discovered for newly recognized disease in Amish children
Date:3/8/2010

hild, conducted field screening in rural northeastern Indiana to search for additional affected children. Meanwhile, the Lancaster County team learned of a fourth child with similar problems who had multiple autoimmune disorders as had several of the Indiana children. Soon they were aware of a total of ten (7 boys and 3 girls) Amish children, with the oldest in his early twenties, who had the unrecognized multisystem disease. All the children were Indiana Old Order Amish (although some no longer lived in Indiana) and were related.

"It was recognizing autoimmune problems, including autoimmune hepatitis and lung and thyroid problems, that led us to focus our efforts to determine that the responsible gene was one identified as ITCH, one of 250 genes in the region of chromosome 20 identified by the Clinic for Special Children team," said Dr. Molleston.

"We found that all the affected children had a mutation in ITCH, a gene which helps in ubiquination, the chaperoning or transporting of proteins around the cell. Ubiquination tells proteins where to go and what to do and it's particularly important in damping down the immune system so it's not overactive. Ubiquitination has many other important roles in the body's cells, possibly explaining some of the other problems these children have," she elaborated.

"Now that the gene has been identified and we are aware of several autoimmune diseases involved, the heavy lifting of identifying and helping these children can begin. We hear often from the father who brought the first child to us. As we all do, he hopes that now that we have identified the gene, we can quickly find effective treatment. But there are a lot of things going on in this disease and it's going to take much more research to find what's wrong with these children, whether environmental or other as yet unidentified factors contribute, and ultimately to develop drugs to affect ITCH without harming the children," she said.


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Contact: Cindy Fox Aisen
caisen@iupui.edu
317-274-7722
Indiana University School of Medicine
Source:Eurekalert

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