Navigation Links
Severe congenital disorder successfully treated in a mouse model for the first time
Date:12/22/2011

Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed. The team headed by Prof. Christian Krner, group leader at the Center for Child and Adolescent Medicine, demonstrated that if female mice are given mannose with their drinking water prior to mating and during pregnancy, their offspring will develop normally even if they carry the genetic mutation for the congenital disorder. The team's outstanding work will contribute to better understanding of the molecular processes of this metabolic disease, along with the key stages in embryonic development, and may offer a therapeutic approach for the first time.

The Heidelberg-based researchers also collaborated with colleagues working with Prof. Hermann-Josef Grne of the German Cancer Research Center (DKFZ)'s Division of Cellular and Molecular Pathology in Heidelberg. Their results have now been published online in the internationally respected journal Nature Medicine in advance of their publication in the print edition.

Rare disease: Approx. 1,000 children affected

So far 1,000 children worldwide are affected by congenital disorders of glycosylation (CDG), which are classified as rare diseases. Affecting around 800 children, type CDG-Ia is most frequent. The number of unreported cases is high, however. Children with CDG are severely physically and mentally disabled, with approx. 20 percent dying before the age of two. To date, no therapy has been available to treat the disorder.

CDG-Ia is caused by mutations in the genetic information for the enzyme Phosphomannomutase 2 which is involved in important glycosylation processes: Mannose-1-phosphate is not produced in sufficient quantities. As a result, glycosylation malfunctions, meaning that sugar chains that normally aid in form, stability and function of the glycoproteins are not completely att
'/>"/>

Contact: Prof. Dr. rer. nat. Christian Krner
christian.koerner@med.uni-heidelberg.de
49-622-156-39993
University Hospital Heidelberg
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. Severe climate change costs forecast for Pennsylvania, N.C., Tennessee, N.D.
2. Franklin Square to study airway bypass procedure for severe emphysema
3. Severe gestational hypertension may protect against testicular cancer
4. UT Public Health researchers find link to severe Staph infections
5. Preclinical work shows how one gene causes severe mental retardation
6. New center at Georgia Tech aims to improve recovery of soldiers with severe injuries
7. UF makes gene therapy advance in severe genetic disorder
8. Smaller than expected, but severe, dead zone in Gulf of Mexico
9. Research shows rates of severe childhood obesity have tripled
10. Severe breathing disorders during sleep are associated with an increased risk of dying
11. Test could predict which idiopathic pulmonary fibrosis patients will become severely ill
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Severe congenital disorder successfully treated in a mouse model for the first time
(Date:7/9/2014)... from the oils produced by algae may offer a ... goal, optimization of cost effective strategies for large-scale algae ... Sapphire Energy has developed an innovative solution to the ... described in Industrial Biotechnology , a peer-reviewed journal ... available on the Industrial Biotechnology website ...
(Date:7/9/2014)... URBANA, Ill. With over 100 diseases that can ... the top of the most wanted list? University of ... reason that more research is needed on the fungus ... associated with cool, damp growing conditions but Macrophomina ... hot and dry drought conditions. , "As the climate ...
(Date:7/9/2014)... from China challenges the commonly held belief that birds ... to fly. The birdlike fossil is actually not a ... of a tiny tree-climbing animal that could glide, say ... Blanding, Utah, and Alan Feduccia of the University of ... of Ornithology . , The fossil of the ...
Breaking Biology News(10 mins):Controlling contamination in open algae ponds for biofuels 2Climate change provides good growing conditions for charcoal rot in soybeans 2Climate change provides good growing conditions for charcoal rot in soybeans 3Researchers declassify dinosaurs as being the great-great-grandparents of birds 2
... Research Vessel Polarstern had to prove its ice breaking ... series of long-term research measurements. After working in regions ... Wegener Institute for Polar and Marine Research in the ... August 10th. "This year, we had to cope ...
... the University Of Southern California School Of Dentistry have uncovered ... process that leads to palate formation. Cleft palate ... in one out of every 700 live births. Clefts are ... descent. While males are twice as likely to have a ...
... Ikaria Holdings, Inc., a fully,integrated critical care ... Drug Administration (FDA) has granted orphan drug designation,for ... of the incidence and,severity of delayed graft function ... Rosskamp, M.D., Executive Vice President of Research and,Development ...
Cached Biology News:Successful series of measurements in Arctic sea ice 2Successful series of measurements in Arctic sea ice 3Successful series of measurements in Arctic sea ice 4USC researchers identify alternate pathway that leads to palate development 2USC researchers identify alternate pathway that leads to palate development 3Ikaria(R) Receives FDA Orphan Drug Designation for Inhaled Carbon Monoxide for Delayed Graft Function in Solid Organ Transplants 2
(Date:1/14/2014)... PA (PRWEB) January 14, 2014 Date: Friday, ... , Location: Warrington Country Club, 1360 Almshouse Road, Warrington, Pa. ... national nonprofit organization solely dedicated to finding a cure for ... affected worldwide, will host its annual Crystal Ball on Friday, ...
(Date:1/14/2014)... , Jan. 14, 2014 As pet owners drew up their ... of them wrote: "Take better care of my furry companion." Nowadays ... clothes and top-brand carrying cases to take the little canine or ... also feel compelled to buy some pricey toys at the pet ...
(Date:1/14/2014)... January 14, 2014 iLab Solutions, the leader ... the new Director of Product Strategy. In this role, Michelle ... iLab sub-teams to guide in the development of iLab products. ... the maximum possible benefit to the scientific community by offering ...
(Date:1/14/2014)... ®, provider of RapidResponse ®, a cloud-based supply chain ... S&OP ) service, is proud to be a gold sponsor ... at the Hilton San Diego Bayfront, January 30 – 31, ... , Director of Supply Chain at Amgen, as she presents ...
Breaking Biology Technology:Hepatitis B Foundation to Host Annual Crystal Ball Gala 2New Year's Resolution: Give Pets the Gift of Top-Notch Health Care 2iLab Solutions Announces Michelle Detwiler as the New Director of Product Strategy 2Event Alert: Kinaxis Customer to Present at the Biomanufacturing Summit "Supply Chain: Improving Network Effectiveness" 2
... Inc. (Nasdaq: SNMX ) will release its first ... the opening of the U.S. financial markets. The Company ... broadcast that will provide a corporate update and a review ... 11:00 a.m. Eastern Time (8:00 a.m. Pacific Time). To ...
... private insurers are placing unprecedented pressures on Life Sciences ... according to The 2009 Ernst & Young business risk ... to increase demands to demonstrate value in the years ... tax base, aging populations, and a mandate to provide ...
... April 23 HUNT Biosciences, the,commercial arm of ... the,appointment of former GE Healthcare director Per Foss ... healthcare companies with biomarker,discovery and validation services. These ... the past 25 years has gathered blood samples ...
Cached Biology Technology:SENOMYX, INC. FIRST QUARTER 2009 EARNINGS CONFERENCE CALL SCHEDULED FOR MAY 7, 2009 2Failing to Demonstrate Value of Innovation is Top Risk Facing Life Sciences Sector, According to Ernst & Young 2Failing to Demonstrate Value of Innovation is Top Risk Facing Life Sciences Sector, According to Ernst & Young 3Failing to Demonstrate Value of Innovation is Top Risk Facing Life Sciences Sector, According to Ernst & Young 4Former GE Healthcare Director, Per Foss Appointed CEO for HUNT Biosciences 2
... Simplify the process and you reduce ... built into the CEQ 8000. Developed using ... and leadership in capillary electrophoresis technology, the ... analysis system. This system automatically fills the ...
The external laser upgrade for the Molecular Imager FX adds a 635 nm external laser; the 555 nm long pass filter is replaced with a 605 nm band pass filter to distinguish Cy5 from 532 nm excitable dy...
... The APO-BRDU Kit is a 2-color ... total cellular DNA to detect apoptotic cells ... instructions and reagents required for measuring apoptosis ... cells for assessing reagent performance; washing, reaction ...
... The BioGenex VISION Sytem is a ... comes with proprietary digital imaging and ... digital image acquisition, analysis, archving/retrieval and ... a state-of-the-art digital imaging system that ...
Biology Products: