Navigation Links
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."

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.


'/>"/>

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

Related biology news :

1. Improvements in embryonic preimplantation genetic screening techniques
2. New genetic tool helps researchers to analyze cells most important functions
3. WSU receives DOD grant to determine common genetic link among Gulf War Illness patients
4. New genetic study helps to solve Darwins mystery about the ancient evolution of flowering plants
5. A world first: The discovery of a common genetic cause of autism and epilepsy
6. Genetic differences influence the structure of communities
7. UMMS researchers develop new technology to screen and analyze genetic mutations
8. Genetic variants associated with caffeine intake identified
9. New technology capable of detection of 150 genetic syndromes from an amniocentesis
10. Michael S. Watson, Ph.D., receives Am College of Medical Genetics-ACMG Foundation Presidents Award
11. Genetic changes behind sweet tooth
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/24/2016)... 23, 2016 Cercacor today introduced Ember TM ... trainers non-invasively measure hemoglobin, Oxygen Content, Oxygen ... Respiration Rate in approximately 30 seconds. Smaller than a ... immediate access to key data about their bodies to ... regimen. Hemoglobin carries oxygen to muscles. ...
(Date:11/22/2016)... Minn. , Nov. 22, 2016   MedNet ... supports the entire spectrum of clinical research, is pleased ... Medical LiveWire Healthcare and Life Sciences Awards ... award caps off an unprecedented year of recognition and ... trials for over 15 years. iMedNet ...
(Date:11/19/2016)... 18, 2016 Securus Technologies, a leading provider ... safety, investigation, corrections and monitoring, announced today that it ... to have an independent technology judge determine who has ... high tech/sophisticated telephone calling platform, and the best customer ... do most of what we do – which clearly ...
Breaking Biology News(10 mins):
(Date:12/7/2016)... /PRNewswire/ - OncoQuest Inc. ("OncoQuest"), a biopharmaceutical company ... products for the treatment of cancer, today announced ... Development Program with Cytovance Biologics ( Oklahoma ... antibody product. Supported by recent positive interim clinical ... ovarian cancer patients, OncoQuest has engaged Cytovance to ...
(Date:12/7/2016)... , December 8, 2016 The report "Acrylic Processing Aid Market by ... Packaging, Automotive, Consumer Goods) - Global Forecast to 2026", published by MarketsandMarkets, the ... reach USD 1,173.6 Million by 2026, registering an of CAGR of 6.2% between ... ... MarketsandMarkets Logo ...
(Date:12/7/2016)... ARBOR, Mich. , Dec. 7, 2016  Lycera ... modulatory medicines, announced today the initiation of a Phase ... LYC-30937- E nteric C oated, in patients with ... is estimated to affect as many as 7.5 million people ... approximately 1.5 - 3 million cases being diagnosed as ...
(Date:12/7/2016)... ... December 07, 2016 , ... ... and online shopping cart. The new website has been designed to provide ... digital components allow customers to access detailed product information, read educational industry content ...
Breaking Biology Technology: