Holy glycosylation! New 'bat signal' flags distressed cells in childhood genetic diseases

June 12, 2012

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, 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 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 . "Knowing when and where there are with flawed glycosylation pathways should allow researchers to rapidly screen for compounds that may have therapeutic potential."

More information: 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

Related Stories

It takes a sugar to catch a sugar

December 2, 2011

After every meal, the hormone insulin is released into the bloodstream, issuing instructions to target cells to begin taking up excess sugar. In some situations, however, cells stop responding to these signals; and this insulin-resistant ...

Recommended for you

Crystal clear images uncover secrets of hormone receptors

July 31, 2015

Many hormones and neurotransmitters work by binding to receptors on a cell's exterior surface. This activates receptors causing them to twist, turn and spark chemical reactions inside cells. NIH scientists used atomic level ...

A cheaper, high-performance prosthetic knee

July 30, 2015

In the last two decades, prosthetic limb technology has grown by leaps and bounds. Today, the most advanced prostheses incorporate microprocessors that work with onboard gyroscopes, accelerometers, and hydraulics to enable ...

Flow means 'go' for proper lymph system development

July 27, 2015

The lymphatic system provides a slow flow of fluid from our organs and tissues into the bloodstream. It returns fluid and proteins that leak from blood vessels, provides passage for immune and inflammatory cells from the ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.