Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Milk sugar fights deadly disease

07.02.2014
A large international team of researchers has identified treatment options for a novel life-threatening disease.

The disease can be easily recognized by looking into the mouth: most patients have a split uvula. The disease can be severe and affect the heart, the muscles, the liver and many other organs. Further research revealed a novel therapy: galactose can successfully be applied to treat patients. The main source of galactose is lactose, better known as milk sugar.


As "uvula bifida" physician denote the longitudinal splitting of the uvula. It can be an indication of a PGM1 deficiency

Scientific background
Phosphoglucomutase (PGM1) is a key enzyme in the cytoplasm of every cell. It is responsible to store energy coming from glucose in the food as glycogen if there is no need for energy, and, vice versa, to release energy from glycogen in times of exercise. In addition it has a function in the incorporation of sugars in proteins, called protein glycosylation.

A group of patients was identified with defects in this enzyme leading to a multitude of clinical symptoms. Project leader Thorsten Marquardt, University’s Children Hospital Münster: "Patients present with muscle pain or red urine after exercise, liver disease with low blood sugar levels, heart failure and other symptoms. This reflects the multitude of pathways that is linked to PGM1. But most importantly, patients can be readily identified by the presence of a split uvula which can easily be found by inspection of the mouth.” Dirk Lefeber, Radboud University Medical Center and co-leader of the project: “Innovative technology allowed us to analyze the precise glycan structures on blood proteins. This resulted in a specific biomarker that can now be applied to quickly diagnose patients with a simple blood test. The research not only linked energy metabolism with protein glycosylation via PGM1, but also highlighted important features of disease pathology.”

Personalized treatment using the sugar galactose
Protein-linked glycans from patients specifically lacked galactose. Studies in patient cells showed that addition of galactose could restore protein glycosylation without affecting glycogen metabolism. Supplementation with galactose in patients improved glycosylation. Further treatment options consist of supplementation with complex carbohydrates to stabilize blood glucose levels and avoiding aerobic exercise to prevent heart failure. In this way not only the disease mechanism was clarified, but a therapeutic concept was established and successfully applied.
Neonatal screening
In view of the therapeutic options for this life-threatening disease and the fact that some patients died of heart failure, possibilities for early screening were investigated. Deficiency of PGM1 could already be diagnosed in blood spot cards that are used in neonatal screening. This opens a promising perspective to extend current national neonatal screening programs with PGM1 deficiency for early diagnosis of patients and to initiate early intervention before onset of disease symptoms.

Notes

Radboud university medical center is an institute for patient care, research and education & training, located in Nijmegen. Our mission is to have a significant impact on healthcare. We aim to be a frontrunner in the development of innovative, sustainable and affordable healthcare. By offering excellent quality, participatory and personalised healthcare, operational excellence and sustainable networks. Our almost 10,000 employees and over 3,000 students do their utmost every day to make a positive contribution to the future of healthcare and medical sciences.

Here in the University Medicine Münster the manifold specialized competences of the University Hospital Münster (UKM) and the University Münster (WWU) meet. The UKM as a maximum care hospital with a capacity of 1,457 beds and more than 30 clinics delivers best-in-class medicine and high performance medical care to round about 56,000 ambulant patients as well as to 464,000 in-patient cases. Excellent research is conducted here by 2,000 scientists and the medical training of round about 3,000 future medical doctors is carried out at the Medical Faculty of the University Münster. Thanks to the close cooperation of both institutes the results gained from the research at the Medical Faculty are directly passed on to the health care of the University Hospital Münster.

Weitere Informationen:

http://www.nejm.org/doi/full/10.1056/NEJMoa1206605
- The New England Journal of Medicine

Thomas Bauer | idw
Further information:
http://www.uni-muenster.de/

Further reports about: Medical Wellness PGM1 blood glucose level blood protein heart failure milk

More articles from Health and Medicine:

nachricht An ounce of prevention: Research advances on 'scourge' of transplant wards
28.08.2015 | University of Wisconsin-Madison

nachricht Hypoallergenic parks: Coming soon?
27.08.2015 | American Society of Agronomy

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: OU astrophysicist and collaborators find supermassive black holes in quasar nearest Earth

A University of Oklahoma astrophysicist and his Chinese collaborator have found two supermassive black holes in Markarian 231, the nearest quasar to Earth, using observations from NASA's Hubble Space Telescope.

The discovery of two supermassive black holes--one larger one and a second, smaller one--are evidence of a binary black hole and suggests that supermassive...

Im Focus: What would a tsunami in the Mediterranean look like?

A team of European researchers have developed a model to simulate the impact of tsunamis generated by earthquakes and applied it to the Eastern Mediterranean. The results show how tsunami waves could hit and inundate coastal areas in southern Italy and Greece. The study is published today (27 August) in Ocean Science, an open access journal of the European Geosciences Union (EGU).

Though not as frequent as in the Pacific and Indian oceans, tsunamis also occur in the Mediterranean, mainly due to earthquakes generated when the African...

Im Focus: Self-healing landscape: landslides after earthquake

In mountainous regions earthquakes often cause strong landslides, which can be exacerbated by heavy rain. However, after an initial increase, the frequency of these mass wasting events, often enormous and dangerous, declines, in fact independently of meteorological events and aftershocks.

These new findings are presented by a German-Franco-Japanese team of geoscientists in the current issue of the journal Geology, under the lead of the GFZ...

Im Focus: FIC Proteins Send Bacteria Into Hibernation

Bacteria do not cease to amaze us with their survival strategies. A research team from the University of Basel's Biozentrum has now discovered how bacteria enter a sleep mode using a so-called FIC toxin. In the current issue of “Cell Reports”, the scientists describe the mechanism of action and also explain why their discovery provides new insights into the evolution of pathogens.

For many poisons there are antidotes which neutralize their toxic effect. Toxin-antitoxin systems in bacteria work in a similar manner: As long as a cell...

Im Focus: Fraunhofer IPA develops prototype of intelligent care cart

It comes when called, bringing care utensils with it and recording how they are used: Fraunhofer IPA is developing an intelligent care cart that provides care staff with physical and informational support in their day-to-day work. The scientists at Fraunhofer IPA have now completed a first prototype. In doing so, they are continuing in their efforts to improve working conditions in the care sector and are developing solutions designed to address the challenges of demographic change.

Technical assistance systems can improve the difficult working conditions in residential nursing homes and hospitals by helping the staff in their work and...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Networking conference in Heidelberg for outstanding mathematicians and computer scientists

20.08.2015 | Event News

Scientists meet in Münster for the world’s largest Chitin und Chitosan Conference

20.08.2015 | Event News

Large agribusiness management strategies

19.08.2015 | Event News

 
Latest News

Interstellar seeds could create oases of life

28.08.2015 | Physics and Astronomy

An ounce of prevention: Research advances on 'scourge' of transplant wards

28.08.2015 | Health and Medicine

Fish Oil-Diet Benefits May be Mediated by Gut Microbes

28.08.2015 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>