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Research / Discovery

National Autism Awareness Month: Biochemists investigate protein involved in Rett Syndrome

April 28, 2011

Families desperate for cures of a debilitating disease have helped push the research of two Colorado State University biochemists in a new direction.

Jeff Hansen, professor of biochemistry and molecular biologyUntil several years ago, Colorado State University biochemists Jeff Hansen and Karolin Luger weren’t intending to study Rett Syndrome – a condition with similarities to autism that robs an otherwise healthy child of speech and motor skills and causes mental retardation and other major health problems. There is no cure for Rett Syndrome.

NIH grant led to protein studies

Hansen received a National Institutes of Health grant in 2007 to study how the protein, MeCP2, helps organize genomes, or encoded DNA, in cells. Luger received a grant in 2007 from the International Rett Syndrome Foundation to investigate how MeCP2 interacts with the nucleosome, the subunit of the genome. Luger and Hansen, who are among the world’s experts in chromatin structure, often collaborate on projects relating to genome structure and function.

Through their research, they found the MeCP2 protein did not follow the rules of protein structure – a discovery that Hansen first published in 2007 and more recently Luger and Hansen published in the January 2011 issue of Nucleic Acids Research. They concluded that the protein folds up differently when binding to chromatin but still functions despite its disorderly tendencies.

“This discovery adds a layer of complication because this protein doesn’t follow the typical rules of protein structure that I teach in my undergraduate biochemistry course,” Hansen said. “These are completely different types of proteins that somehow manage to function even though they’re disordered.”

Families of children with syndrome reaching out

The discovery was particularly intriguing because the scientists knew that MeCP2 had been linked to Rett Syndrome. Coincidentally, parents of young girls with the disease – who knew about research in the Hansen and Luger laboratories – reached out to them for any information that could help them with treatments and cures.

Rett Syndrome affects about 1 in 15,000 children, mostly girls, and is the most common neurodevelopmental disorder in girls. The condition appears in otherwise healthy children at about 18 months. The children develop major heart problems, lose motor control and the ability to speak words and often scream for no particular reason.

Karolin Luger, University Distinguished Professor of biochemistry and molecular biology“You talk to these parents and you see these girls and you think maybe we can contribute to a cure,” Luger said. “That’s why having a university that does basic research is so important. There’s nothing about this strange folding of this protein that leads directly to disease, but hopefully, we can use that information in the future to make a bridge.”

A step in a long process

While sympathetic to struggling families, Luger and Hansen have had to stress to concerned parents that they are nowhere near treatments or a cure – but they’ve at least made a dent in understanding more about this protein and how it works.

“Most cures come from studying the intact system,” Luger said. “We need to figure out what it’s missing when it’s diseased or mutated. You can’t address this without getting at the basics. The bottom line is lack of understanding of basic function of the protein is definitely getting in the way of treating the disease.”

For more information about Rett Syndrome, go to the International Rett Syndrome Association at http://www.rettsyndrome.org/.


Contact: Emily Wilmsen
E-mail: Emily.Wilmsen@colostate.edu
Phone: (970) 491-2336