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:4/19/2017)... ALBANY, New York , April 19, 2017 /PRNewswire/ ... highly competitive, as its vendor landscape is marked by ... in the market is however held by five major ... and Safran. Together these companies accounted for nearly 61% ... majority of the leading companies in the global military ...
(Date:4/11/2017)... BEACH GARDENS, Fla. , April 11, 2017 ... identity management and secure authentication solutions, today announced ... contract by Intelligence Advanced Research Projects Activity (IARPA) ... for IARPA,s Thor program. "Innovation has ... onset and IARPA,s Thor program will allow us ...
(Date:4/5/2017)... , April 5, 2017  The Allen Institute for ... Cell Explorer: a one-of-a-kind portal and dynamic digital window ... imaging data, the first application of deep learning to ... stem cell lines and a growing suite of powerful ... for these and future publicly available resources created and ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... Palo Alto, CA, USA (PRWEB) , ... October 11, 2017 , ... ... is set to take place on 7th and 8th June 2018 in San Francisco, ... and policy influencers as well as several distinguished CEOs, board directors and government officials ...
(Date:10/11/2017)... ... October 11, 2017 , ... A ... pregnancy rates in frozen and fresh in vitro fertilization (IVF) transfer ... age to IVF success. , After comparing the results from the fresh and ...
(Date:10/10/2017)... ... October 10, 2017 , ... Dr. Bob Harman, founder and CEO of ... Rotary Club. The event entitled “Stem Cells and Their Regenerative Powers,” ... Dr. Harman, DVM, MPVM was joined by two human doctors: Peter B. Hanson, ...
(Date:10/9/2017)... 9, 2017  BioTech Holdings announced today identification ... its ProCell stem cell therapy prevents limb loss ... Company, demonstrated that treatment with ProCell resulted in ... as compared to standard bone marrow stem cell ... in reduction of therapeutic effect.  ...
Breaking Biology Technology: