Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene responsible for developmental disorder identified

24.03.2003


Discovery could lead to new therapies for Smith-Magenis Syndrome



Researchers at Michigan State University have identified the gene responsible for a developmental disorder known as Smith-Magenis syndrome (SMS), a discovery that could lead to new therapies for the disorder and the myriad problems that accompany it.
The finding is documented in the March 24 issue of Nature Genetics, a prestigious peer-reviewed British journal.

SMS is a chromosome microdeletion syndrome that is characterized by a very distinct series of physical, developmental and behavioral features, including varying levels of mental retardation, cranio-facial abnormalities, sleep disturbances and self-injurious behaviors.



Because the disease is manifested in so many ways and is associated with a chromosomal deletion that includes many genes, it was always assumed that more than one gene contributed to the disorder, said researcher Sarah Elsea.

"This disorder was assumed to be a contiguous gene syndrome," said Elsea, an assistant professor in the departments of Pediatrics and Human Development and Zoology. "However, our data show that primarily one gene contributes to the phenotype."

What Elsea and colleagues found was mutation on a gene – identified as retionic acid induced 1 (RAI1) – that prevents the production of normal protein from that gene.

"The result of this mutation is that the protein can’t be formed properly," she said. "Individuals with SMS have one normal functioning RAI1 protein from one chromosome, but from the other chromosome they are not getting this protein function at all."

Because SMS is a sporadic genetic disorder, prevention is pretty much out of the question, Elsea said. However, early diagnosis of the disorder can lead to improved outcomes.

"I think that in the future, if we understand what this gene, this protein, does and how it interacts with other proteins in the cell, we might be able to develop some kind of drug therapy that might help deal with the behaviors a little better," she said. "Early diagnosis is beneficial because the child needs the most appropriate early interventions."

Elsea said it’s also very important for parents of SMS children to have a diagnosis.

"They need to know that it’s not something that is preventable," she said. "Parents are sometimes blamed for the abilities or inabilities of their children and that’s unfortunate. A proper diagnosis is crucial for the well-being of the family."

It is estimated that SMS occurs in one of every 25,000 births.

"We’re hopeful this study could have wider-ranging effects on the study of sleep disorders and other behavioral problems, as well as provide more insight into early development of the fetus," Elsea said.

Contributing to the research were Rebecca Slager and Christopher Vlangos, doctoral students in the MSU Genetics Program; Tiffany Lynn Newton, a junior in MSU’s Howard Hughes Undergraduate Research Support Program; and Brenda Finucane of the Elwyn Training and Research Institute of Elwyn, Pa.

Tom Oswald | EurekAlert!
Further information:
http://www.msu.edu/

More articles from Health and Medicine:

nachricht Another reason to exercise: Burning bone fat -- a key to better bone health
19.05.2017 | University of North Carolina Health Care

nachricht Disrupted fat breakdown in the brain makes mice dumb
19.05.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

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: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

Im Focus: Bacteria harness the lotus effect to protect themselves

Biofilms: Researchers find the causes of water-repelling properties

Dental plaque and the viscous brown slime in drainpipes are two familiar examples of bacterial biofilms. Removing such bacterial depositions from surfaces is...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

Innovation 4.0: Shaping a humane fourth industrial revolution

17.05.2017 | Event News

 
Latest News

Supercomputing helps researchers understand Earth's interior

23.05.2017 | Earth Sciences

Study identifies RNA molecule that shields breast cancer stem cells from immune system

23.05.2017 | Life Sciences

Turmoil in sluggish electrons’ existence

23.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>