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

Monday, April 18, 2011, Cleveland: Researchers have identified a genetic mutation found in the Ohio Amish population as the cause of a fatal developmental disease in fetuses and infants, according to research published in the April 8, 2011, issue of Science.

The genetic mutation is caused by a defect during the cellular protein-making process, causing microcephalic osteodysplastic primoridal dwarfism type 1 (MOPD1), a rare developmental disorder that greatly slows fetal growth in the uterus and causes severe brain and organ abnormalities, deformities of the arms and legs, and death in infancy or early childhood.

MOPD1 is seen throughout the world but this study found that the MOPD1-associated mutation is particularly prevalent in the Ohio Amish population, appearing in approximately 6 percent of the community.

Richard Padgett, Ph.D., Staff Researcher in the Department of Molecular Genetics in Cleveland Clinic's Lerner Research Institute, led the functional genetic portion of the study. The study was led by Albert de la Chapelle, M.D., Ph.D., Professor, Department of Molecular Virology, Immunology and Medical Genetics of The Ohio State University's Comprehensive Cancer Center.

The findings could lead to a test for people who unknowingly carry a copy of the mutation, a better understanding of RNA splicing, and information about whether these mutations that arise during an individual's lifetime contribute to the development of cancer or other diseases.

This research represents the first report of a human disease caused by mutations in a small RNA required for "splicing," a molecular process that removes regions of genetic material that are not expressed as proteins.

According to Padgett, "This study provides a solid example of the profound effect that RNA processing can have on disease. As a result, other disorders that share similar clinical features with MOPD1 may be more reliably diagnosed."


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

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