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 Study tracks inner workings of the brain with new biosensor
16.08.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht Foods of the future
15.08.2018 | Georg-August-Universität Göttingen

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: Color effects from transparent 3D-printed nanostructures

New design tool automatically creates nanostructure 3D-print templates for user-given colors
Scientists present work at prestigious SIGGRAPH conference

Most of the objects we see are colored by pigments, but using pigments has disadvantages: such colors can fade, industrial pigments are often toxic, and...

Im Focus: Unraveling the nature of 'whistlers' from space in the lab

A new study sheds light on how ultralow frequency radio waves and plasmas interact

Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

Im Focus: The “TRiC” to folding actin

Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.

Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

LaserForum 2018 deals with 3D production of components

17.08.2018 | Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

 
Latest News

Smallest transistor worldwide switches current with a single atom in solid electrolyte

17.08.2018 | Physics and Astronomy

Robots as Tools and Partners in Rehabilitation

17.08.2018 | Information Technology

Climate Impact Research in Hannover: Small Plants against Large Waves

17.08.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>