Just as Gotham City uses the Bat Signal to call for Batman's aid, a new tool developed by scientists from the Sanford-Burnham Medical Research Institute in La Jolla, California, should serve as the cellular equivalent for children with glycosylation disorders, sometimes called "CDG syndromes."
In a new report appearing online in The FASEB Journal (http://www.fasebj.org), scientists describe how they used a green fluorescent protein to identify the presence of genes—known and unknown—associated with a wide variety of glycosylation-related diseases. By being able to identify exactly which genes are defective, researchers can develop treatments and therapies to correct the root causes of these diseases rather than merely treating the symptoms.
Glycosylation is an enzymatic process that coats proteins, lipids or other organic molecules with sugar molecules. It helps cells "stick" together, and proteins fold and work properly, among other things. When this process does not function correctly, it causes diseases involving intellectual disability, digestive problems, seizures and low blood sugar.
"We hope this glowing protein will help light the path for the discovery of new genes that cause genetic disorders in children," said Hudson Freeze, Ph.D., a senior researcher involved in the work from the Genetic Disease Program at Sanford-Burnham Medical Research Institute in La Jolla, California. "It's not Harry Potter's magic wand, but we hope it will offer a way to test for new therapies in these kids. They're counting on us."
To make this advance, Freeze and colleagues engineered cells from children with glycosylation disorders so the cells would glow to indicate when there was a glycosylation problem related to a defective or missing gene. Once the problematic, glowing cells were "rescued" by inserting a healthy gene into the cell or correcting a defective gene's function, the cells stopped glowing. This new tool may be used in high-throughput screening to identify therapeutic molecules that improve glycosylation in defective cells, including stem cells. In addition, this advance may serve as the foundation for a new diagnostic tool for patients.
"These glowing proteins serve as a hotline between distressed cells and researchers hoping to restore their normal function," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "Knowing when and where there are cells with flawed glycosylation pathways should allow researchers to rapidly screen for compounds that may have therapeutic potential."
Receive monthly highlights from The FASEB Journal by e-mail. Sign up at http://www.faseb.org/fjupdate.aspx. The FASEB Journal (http://www.fasebj.org) is published by the Federation of the American Societies for Experimental Biology (FASEB) and is the most cited biology journal worldwide according to the Institute for Scientific Information. In 2010, the journal was recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century. FASEB is composed of 26 societies with more than 100,000 members, making it the largest coalition of biomedical research associations in the United States. Celebrating 100 Years of Advancing the Life Sciences in 2012, FASEB is rededicating its efforts to advance health and well-being by promoting progress and education in biological and biomedical sciences through service to our member societies and collaborative advocacy.
Details: Marie-Estelle Losfeld, Francesca Soncin, Bobby G. Ng, Ilyas Singec, and Hudson H. Freeze. A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J. doi:10.1096/fj.12-211656 ; http://www.fasebj.org/content/early/2012/06/11/fj.12-211656.abstract
Cody Mooneyhan | EurekAlert!
Further information:
http://www.faseb.org
Further reports about: > Experimental Biology > FASEB > Medical Wellness > genetic disorder > glycosylation disorder > green fluorescent protein > infrared-fluorescent proteins > organic molecule > sugar molecule
One step closer to reality
20.04.2018 | Max-Planck-Institut für Entwicklungsbiologie
The dark side of cichlid fish: from cannibal to caregiver
20.04.2018 | Veterinärmedizinische Universität Wien
University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.
Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.
Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.
Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...
Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.
The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...
Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.
Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...
In the fight against cancer, scientists are developing new drugs to hit tumor cells at so far unused weak points. Such a “sore spot” is the protein complex...
Anzeige
Anzeige
Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"
13.04.2018 | Event News
Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018
12.04.2018 | Event News
IWOLIA: A conference bringing together German Industrie 4.0 and French Industrie du Futur
09.04.2018 | Event News
Magnetic nano-imaging on a table top
20.04.2018 | Physics and Astronomy
Start of work for the world's largest electric truck
20.04.2018 | Interdisciplinary Research
Atoms may hum a tune from grand cosmic symphony
20.04.2018 | Physics and Astronomy