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Diagnostics Help Discover Disease Indigenous to Amish

March 16, 2010
Written by: , Filed in: Diagnostic Imaging
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Beginning with diagnostic imaging and other medical tests, physicians in Pennsylvania eventually discovered a recessive gene that caused their young Amish patient’s newly identified disease, which was only found in other Amish children.

According to an article in Medical News Today, the  boy was behind in growth rate and developmental milestones. He had recurring diarrhea and was visibly different from his peers. He had an enlarged liver and spleen but no other indicators toward a diagnosis. When  his cousin showed similar characteristics, when his brother was born with the same problems and when a fourth child surfaced, doctors got blood samples and found abnormalities in an area of chromosome 20. 

Jean P. Molleston, MD, an Indiana University professor of pediatrics and a gastroenterologist, and Naomi Lohr, MD, then an IU School of Medicine resident, secured the help of the boy’s father and screened other Amish children in northeastern Indiana. They found ten other boys, girls and young adults with the multisystem disorder. They were all related and were all Indiana Old Order Amish, though not all of them still lived in Indiana.

“It was recognizing autoimmune problems, including autoimmune hepatitis and lung and thyroid problems,” Dr. Molleston said, “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,” which specializes in the search of genetic disorders in the Amish community.

“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,” Dr. Molleston said. “Ubiquination tells proteins where to go and what to do, and it’s particularly important to damping down the immune system so it’s not overactive. Ubiquination has many other important roles in the body’s cells, possibly explaining some of the other problems these children have.”

 The doctors and their team are still working to determine if the environment or other factors cause or contribute to the condition.

Two years ago researchers identified another gene mutation that was also found mainly among the Amish, according to Science Daily and other sources. The  APOC3 gene inhibits the breakdown of triglycerides, but 5% of Amish, with the mutation, have low levels of blood triglycerides and fewer instances of hardening of the arteries.

Related seminar: Pediatric Diagnostic Imaging

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