Protein found in brain cells may shed new light on the cause of dystonia

May 10, 2001

LOS ANGELES (Embargoed Until May 10, 2001, 3 p.m. EDT) -- Researchers at Cedars-Sinai Medical Center have identified a new protein in brain cells that may help to regulate muscle control and movement. The protein, called torsinB, is closely related to torsinA - a protein that in its defective form - has been linked to the development of early-onset dystonia, a neurologic disorder that causes involuntary muscle spasms and twisting of the limbs. The finding, reported at the 53rd Annual Meeting of the American Academy of Neurology, may bring researchers one step closer to understanding how dystonia occurs, ultimately enabling them to develop new therapies to treat the disease.

"Our research shows that the two proteins are almost identical, which implies that they have a similar function. The next step will be to identify the exact role of the torsinB protein," said Stefan-M. Pulst, M.D., who holds the Carmen and Louis Warschaw Chair in Neurology at Cedars-Sinai Medical Center.

Unlike some forms of dystonia, which affect only one part or area of the body, early-onset dystonia is the most severe form of the disease and occurs in childhood. The disorder usually starts with the leg or the foot and eventually affects the child's entire body. In some families, early-onset dystonia is inherited and has been linked to a gene called DYT1, which makes the torsinA protein. When DYT1 is defective, current scientific thinking is that torsinA fails to function normally, leading to the development of early-onset dystonia. Moreover, the disorder has been linked to a part of the brain called the basal ganglia, which is known to regulate both voluntary and involuntary muscle control.

"Although we don't know the exact role of the torsin proteins, we do know that the defective form of torsinA somehow disrupts communication among the neurons that regulate muscle control and leads to the symptoms of dystonia," explained Dr. Pulst.

To understand how the torsin proteins might be involved in the development of dystonia, the investigators examined tissue from the adult mouse brain and developing mouse embryo (at different stages of development) to determine where the proteins were expressed. Using specialized laboratory tests, the tissues were stained with antibodies directed to the respective torsin proteins so that the investigators were able to see where torsinA and B were located. With only slight differences, they found that both torsinA and torsinB were widely expressed throughout the adult mouse brain including such structures as the cortex, thalamus, basal ganglia, hippocampus, and cerebellum.

"Because the anatomical distribution of the two proteins were almost identical and not limited to the basal ganglia, other parts of the brain may very well be implicated in the development of early-onset dystonia," said Dr. Pulst.

Additionally, in the developing embryo and mouse brain tissue, the investigators found that torsinA and torsinB were largely expressed in neuronal processes, indicating that the proteins may be involved in regulating the release of neurotransmitters, or the nerve impulses that direct communication between the brain and body.

Although torsinA is abundantly expressed in human tissues that include brain, muscle, liver and kidney, the investigators found no torsin proteins present in the liver, kidney or lungs during embryonic development of the mouse. However, torsin proteins were observed in the heart, cartilage and bone structures.

"The presence of these proteins in cartilage and heart during development, may indicate that the torsin proteins may have important functions outside the brain," said Dr. Pulst.
This research was supported by the F.R.I.E.N.D.S of Neurology and the National Institutes of Health.

Cedars-Sinai Medical Center is one of the largest non-profit hospitals in the Western United States. For the fifth straight two-year period, Cedars-Sinai has been named Southern California's gold standard in health care in an independent survey. Cedars-Sinai is internationally renowned for its diagnostic and treatment capabilities and its broad spectrum of programs and services, as well as breakthrough biomedical research and superlative medical education. The Medical Center ranks among the top seven non-university hospitals in the nation for its research activities.

For media information and to arrange interviews, please contact Kelli Stauning at 310-423-3674 or via e-mail at

Cedars-Sinai Medical Center

Related Brain Articles from Brightsurf:

Glioblastoma nanomedicine crosses into brain in mice, eradicates recurring brain cancer
A new synthetic protein nanoparticle capable of slipping past the nearly impermeable blood-brain barrier in mice could deliver cancer-killing drugs directly to malignant brain tumors, new research from the University of Michigan shows.

Children with asymptomatic brain bleeds as newborns show normal brain development at age 2
A study by UNC researchers finds that neurodevelopmental scores and gray matter volumes at age two years did not differ between children who had MRI-confirmed asymptomatic subdural hemorrhages when they were neonates, compared to children with no history of subdural hemorrhage.

New model of human brain 'conversations' could inform research on brain disease, cognition
A team of Indiana University neuroscientists has built a new model of human brain networks that sheds light on how the brain functions.

Human brain size gene triggers bigger brain in monkeys
Dresden and Japanese researchers show that a human-specific gene causes a larger neocortex in the common marmoset, a non-human primate.

Unique insight into development of the human brain: Model of the early embryonic brain
Stem cell researchers from the University of Copenhagen have designed a model of an early embryonic brain.

An optical brain-to-brain interface supports information exchange for locomotion control
Chinese researchers established an optical BtBI that supports rapid information transmission for precise locomotion control, thus providing a proof-of-principle demonstration of fast BtBI for real-time behavioral control.

Transplanting human nerve cells into a mouse brain reveals how they wire into brain circuits
A team of researchers led by Pierre Vanderhaeghen and Vincent Bonin (VIB-KU Leuven, Université libre de Bruxelles and NERF) showed how human nerve cells can develop at their own pace, and form highly precise connections with the surrounding mouse brain cells.

Brain scans reveal how the human brain compensates when one hemisphere is removed
Researchers studying six adults who had one of their brain hemispheres removed during childhood to reduce epileptic seizures found that the remaining half of the brain formed unusually strong connections between different functional brain networks, which potentially help the body to function as if the brain were intact.

Alcohol byproduct contributes to brain chemistry changes in specific brain regions
Study of mouse models provides clear implications for new targets to treat alcohol use disorder and fetal alcohol syndrome.

Scientists predict the areas of the brain to stimulate transitions between different brain states
Using a computer model of the brain, Gustavo Deco, director of the Center for Brain and Cognition, and Josephine Cruzat, a member of his team, together with a group of international collaborators, have developed an innovative method published in Proceedings of the National Academy of Sciences on Sept.

Read More: Brain News and Brain Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to