Published today in the revered New England Journal of Medicine, the study details how a young man suffered a cardiac arrest but survived thanks to the work of the ambulance paramedics. An investigation at Sahlgrenska University Hospital led to the discovery of not only a new disorder but also how a defect in the protein glycogenin can lead to an energy crisis in the muscle cells.
This protein's job is to initiate the build-up of glycogen that constitutes the muscle cells' carbohydrate reserves. The glycogenin starts the actual process by building up a short chain of around ten sugar molecules, which can then be turned into glycogen with the help of other enzymes. During strong muscular work the sugar molecules in the glycogen are used to create energy.
"The disorder is characterised by an inability to form the initial chain of sugar molecules," says Anders Oldfors, who headed up the research team and is a professor at the Sahlgrenska Academy and consultant at Sahlgrenska University Hospital. "This leads to a shortage of glycogen and an energy crisis in the muscle cells that can result in cardiac arrest."
The study also reveals how muscle cells that have a severe congenital defect can adjust and find other ways of sourcing energy, though it may not be sufficient in all situations.
"We're hoping that our continued research in the field will provide answers to how the change in the glycogenin causes an inability to start accumulating carbohydrates in the muscle cells," says Oldfors.
Clinically, the discovery means that this disorder must be considered as a diagnosis when investigating heart problems. For patients, a correct diagnosis means that there is preventative treatment available, though no cure is on the horizon at present. As the cause of the disorder is a genetic defect, it is hoped that in the future patients can be given a customised treatment, or gene therapy, for it.
"But we don't yet know how common this disorder is," says Oldfors. "This is something that the future will hold now that we are in a position to make the correct diagnosis."CARDIAC ARREST
Authors: Ali-Reza Moslemi, Christopher Lindberg, Johanna Nilsson, Homa Tajsharghi, Bert Andersson and Anders Oldfors
Helena Aaberg | idw
Routing gene therapy directly into the brain
07.12.2017 | Boston Children's Hospital
New Hope for Cancer Therapies: Targeted Monitoring may help Improve Tumor Treatment
01.12.2017 | Berliner Institut für Gesundheitsforschung / Berlin Institute of Health (BIH)
Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.
To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...
The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.
Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...
With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong
Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...
An interdisciplinary group of researchers interfaced individual bacteria with a computer to build a hybrid bio-digital circuit - Study published in Nature Communications
Scientists at the Institute of Science and Technology Austria (IST Austria) have managed to control the behavior of individual bacteria by connecting them to a...
Physicists in the Laboratory for Attosecond Physics (run jointly by LMU Munich and the Max Planck Institute for Quantum Optics) have developed an attosecond electron microscope that allows them to visualize the dispersion of light in time and space, and observe the motions of electrons in atoms.
The most basic of all physical interactions in nature is that between light and matter. This interaction takes place in attosecond times (i.e. billionths of a...
11.12.2017 | Event News
08.12.2017 | Event News
07.12.2017 | Event News
12.12.2017 | Life Sciences
12.12.2017 | Information Technology
12.12.2017 | Ecology, The Environment and Conservation