Navigation Links
Major breakthrough in understanding Prader-Willi Syndrome, a parental imprinting disorder
Date:5/12/2014

Scientists at the Hebrew University of Jerusalem have reported a major breakthrough in understanding the molecular basis for Prader-Willi syndrome (PWS), perhaps the most studied among the class of diseases that involves defects in parental imprinting.

The work, described in the latest online edition of the prestigious journal Nature Genetics, was led by Prof. Nissim Benvenisty, the Herbert Cohn Professor of Cancer Research and director of the Stem Cell Unit at the Alexander Silberman Institute of Life Sciences at the Hebrew University; and his PhD student Yonatan Stelzer. Also assisting in the research were graduate student Ido Sagi and Dr. Ofra Yanuka and Dr. Rachel Eiges.

Parental imprinting is a mode of inheritance that results in a small subset of genes to be expressed exclusively from either the mother or father. Prader-Willi syndrome is perhaps the best characterized disease of this sort. It is a multisystem disorder characterized by learning disabilities, excessive weight gain and defective sexual development, and is known to result from aberrations in paternal genes in what is known as the Prader-Willi genomic region of chromosome 15.

"What characterizes this chromosomal region is that paternal genes are active, while the maternal genes are inactive. And while most people would have one normal working and one silenced set of these genes, people with Prader-Willi syndrome have only a defective set (the paternal one) and a silenced (maternal) set," explains Stelzer.

In order to achieve a greater understanding of this process, the Hebrew University investigators created a model for the Prader-Willi syndrome by reprogramming skin cells from PWS patients into embryonic-like cells. Utilizing this system, the investigators have shown that the genes expressed from the father are actually affecting and silencing the genes that are expressed from the mother. These findings have significance in the way that we view parental imprinting and in particular the molecular basis of Prader-Willi syndrome, the scientists say.

Future research should allow further characterization of the contribution of this novel genetic region to the origin of this disease, and perhaps pave the way for identification of possible treatment and characterization of PWS patients. Furthermore, the identification of functional, genomic cross-talk in regions containing parental imprinted genes may significantly change our overall understanding of the evolution of this phenomenon in placental mammals, say the researchers.


'/>"/>

Contact: Dov Smith
dovs@savion.huji.ac.il
972-258-82844
The Hebrew University of Jerusalem
Source:Eurekalert  

Related biology news :

1. New towns going up in developing nations pose major risk to the poor
2. Academy of Natural Sciences receives major grant for program to protect drinking water
3. Major breakthrough in stem cell manufacturing technology
4. Climate engineering: Minor potential, major side effects
5. Graduate student makes major discovery about seal evolution
6. First biological marker for major depression could enable better diagnosis and treatment
7. From artificial to natural, the food industry makes a major shift
8. Cambridge and Norwich win major boost for synthetic biology
9. Big-headed fossil flies track major ecological revolution
10. Academy honors 15 for major contributions to science
11. Fast food not the major cause of rising childhood obesity rates
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Major breakthrough in understanding Prader-Willi Syndrome, a parental imprinting disorder
(Date:3/30/2017)... The research team of The Hong Kong Polytechnic University ... adopting ground breaking 3D fingerprint minutiae recovery and matching technology, pushing ... for use in identification, crime investigation, immigration control, security of access ... ... A research team led by Dr Ajay ...
(Date:3/24/2017)... MILAN , March 24, 2017 The Controller ... Deputy Controller Mr. Abdulla Algeen have received the prestigious international ... Continue Reading ... ... small picture) and Deputy Controller Abdulla Algeen (small picture on the right) ...
(Date:3/22/2017)... YORK , March 21, 2017 ... Marketing Cloud used by retailers such as 1-800-Flowers ... its platform — Product Recommendations and Replenishment. Using Optimove,s ... give more personalized product and replenishment recommendations to ... but also on predictions of customer intent drawn ...
Breaking Biology News(10 mins):
(Date:7/13/2017)... ... July 13, 2017 , ... Thousands of pilots from across the country ... Aeromodeling Championships (Nats). Pilots come to Muncie to compete in various categories of model ... teams that participate in world championships. , RC Pylon (July 14-21): One of the ...
(Date:7/13/2017)... ... July 13, 2017 , ... In’Tech Medical SAS ( http://www.intech-medical.com ... the completion of a major transaction with Eurazeo PME. The reputable French private ... alliance fuels In’Tech Medical’s service offerings while leveraging the company’s manufacturing expertise and ...
(Date:7/13/2017)... ... July 13, 2017 , ... ... (FITCI), has experienced robust growth in the past year after an intensive restructuring. ... several Entrepreneurial Acceleration Programs and expanded its board of directors to revitalize the ...
(Date:7/13/2017)... (PRWEB) , ... July 13, 2017 , ... ... kits, trays, and disposable and reusable medical supplies has chosen The Copley Consulting ... significant growth, Trinity Sterile seeks to align its internal and backend operations to ...
Breaking Biology Technology: