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Genetic mutation linked to lethal disease
Date:4/18/2011

In an accompanying Perspectives article in the journal, Finnish researchers wrote, "The findings provide important genetic tools for diagnosing the disease and for counseling mutation carriers in affected families."

An arduous search by Dr. de la Chapelle's group for the genetic cause of MOPD1 identified a single mutation in the RNU4ATAC gene of affected Amish patients, as well as three other mutations in the RNU4ATAC gene in different groups of affected patients. They found that the MOPD1-associated mutation was present in 6 percent of the Ohio Amish population, while very rare in other groups.

Upon identifying the involvement of RNU4ATAC, the OSU group sought out the molecular genetic expertise of Padgett, who has studied RNA splicing, including U4atac snRNA, for many years. U4atac snRNA is essential for the correct expression of approximately 1 percent of human genes. Padgett's laboratory determined that the mutations identified in the MOPD1 patients resulted in U4atac snRNA that had lost over 90 percent of its activity. They also showed decreased splicing activity in cultured cells derived from Amish MOPD1 patients. Notably, this effect allowed correct diagnosis of the primary genetic defect causing this disease.


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Contact: Dan Doron
dorond@ccf.org
216-312-0428
Lerner Research Institute
Source:Eurekalert

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