Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists Track Protein Linked to Neurological Movement Disorder

18.05.2004


A team led by researchers at Washington University School of Medicine in St. Louis is one step closer to understanding the function of a protein linked to an inherited form of the movement disorder dystonia.



The protein, torsinA, is defective in patients with DYT1 dystonia, an inherited condition that causes uncontrollable movements in the limbs and torso. Learning what torsinA does could be an important step toward developing a treatment for the disorder.

“The hope is that understanding as many forms of dystonia as we can will give us some insight into how we might treat movement disorders generally,” says Phyllis I. Hanson, M.D., Ph.D., assistant professor of cell biology and physiology and senior investigator for the study. “Any new insights might also be helpful for understanding secondary dystonias. These are conditions in which dystonia is a complication of another disorder, such as Parkinson’s disease.”


The study is available in the early online edition of the Proceedings of the National Academy of Sciences and will appear in the May 18 print edition of the journal.

According to the Dystonia Research Foundation, approximately 300,000 Americans have some form of primary dystonia. Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that force certain parts of the body into abnormal, sometimes painful, movements or postures. Dystonia can affect any part of the body including the arms and legs, trunk, neck, eyelids, face or vocal cords. DYT1 dystonia affects about 10,000 Americans.

Co-author Xandra Breakefield, Ph.D., professor of neurology at Harvard University, led the team that identified the gene for DYT1 dystonia in 1997. Researchers later found the gene makes torsinA. Study of torsinA’s structure suggested it belongs to a family of proteins known as AAA+ ATPase proteins. This protein family typically helps cells recycle resources by breaking down assemblies of other proteins and molecules into their components, like disassembling a car for reuse of its parts.

Hanson, who studies behavior of cell membranes, previously found torsinA in the endoplasmic reticulum, a large compartment that has branches that pass through various regions of the cell.
For the new study, she engineered defective copies of the torsinA gene and inserted them into cultured mammalian cells. Hanson designed one of the defective genes to make a form of torsinA that would stick permanently to adenosine triphosphate (ATP), a compound cells use to move energy around. Breaking down ATP normally provides torsinA with a great deal of energy, probably enabling it to perform its main job. Hanson hoped making torsinA stick to ATP would trap it at its normal site of action, revealing where in the cell the protein usually works.

The TorsinA that was stuck to ATP moved into the nuclear envelope, the portion of the endoplasmic reticulum that surrounds the nucleus, the central compartment of the cell where DNA is kept.

“Based on what’s known about other proteins like torsinA, we figure this means torsinA is probably taking something apart in the nuclear envelope,” Hanson says. “The questions are: What is it taking apart and how is that important for the normal structure and function of the nuclear envelope? And how is that activity perturbed by the genetic mutation responsible for DYT1 dystonia?”

Defects in other proteins found in the nuclear envelope recently have been linked to several diseases, including a form of muscular dystrophy and a neuropathy.

“Like any other research, this finding has its caveats,” Hanson says. “But we think that there’s likely to be some important function that torsinA performs in the nuclear envelope.”

Hanson plans further studies to determine torsinA’s function.
###
Naismith TV, Heuser JE, Breakefield XO, Hanson PI. TorsinA in the nuclear envelope. Proceedings of the National Academy of Science, May 18, 2004.

Funding from the National Institutes of Health, the Dystonia Medical Research Foundation, the W.M. Keck Foundation, the McKnight Foundation and the Jack Fasciana Fund for Support of Dystonia Research.

The full-time and volunteer faculty of Washington University School of Medicine are the physicians and surgeons of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked second in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.

Michael C. Purdy | WUSTL
Further information:
http://aladdin.wustl.edu/medadmin/PAnews.nsf/news/603ABE927E2ACF2B86256E97005509C9?OpenDocument

More articles from Life Sciences:

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>