Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which 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.
• Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which 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.
• Abilities such as cognition, strength and the senses are normal in Dystonia sufferers, though speech can be impaired as a symptom.
•Dystonia is not fatal, but is a chronic disorder with often unpredictable prognoses.
•Dystonia is the third most common movement disorder after Parkinson’s Disease and Tremor.
•Dystonia does not discriminate: it affects people of every race and ethnic group and one-third of Dystonia patients are children.
•Dystonia affects more people than Muscular Dystrophy, Huntington’s Disease and Lou Gehrig’s Disease combined.
Are cellular lipids the missing link between a
faulty gene and a neurological disorder?
Researchers at VIB-KU Leuven have managed to
get a clearer view on the roots of dystonia, a neurological disorder that
causes involuntary twisting movements. Led by Rose Goodchild (VIB-KU Leuven)
and supported by the Foundation for Dystonia Research, the VIB scientists
unraveled the mechanism by which DYT1 dystonia - the disease's most common
hereditary form - causes cellular defects. The findings shed new light on this
poorly understood condition - and may, ultimately, lead to new medical
approaches to overcome it.
Dystonia looks like a muscle problem, but
actually originates in the brain. The patient's brain sends out too many
messages that activate too many muscles, causing twisting movements. In some
cases, including DYT1/TOR1A dystonia, a genetic mutation is the main culprit.
In the VIB Center for the Biology of Disease at KU Leuven, Rose Goodchild and
her team are conducting basic research into dystonia, the essential stepping
stone for a cure.
Molecular defects unveiled
dystonia, a genetic error results in a defective protein called torsin.
Scientists already knew that this protein disrupts the neural communication
that controls the muscles, but the how has remained unclear. Until now: research
in the Goodchild lab indicates that torsins regulate the levels of lipids,
molecules that form cell membranes and store energy.
Prof. Rose Goodchild (VIB-KU Leuven):
"For the first time, we understand that a dystonia protein is responsible
for cellular lipid levels. Although we had expected a more complex picture,
with various direct and indirect effects, our data clearly labeled torsin as
the regulator for a particular enzyme of lipid metabolism. This now focuses
attention on how the lipid substrates and products of this enzyme contribute to
neuronal function, and gives us a better view on the exact molecular defects
that cause dystonia."
to the success of this project was the access to state-of-the-art research
instruments, such as VIB's Electron Microscopy facilities, allowing deep-study
of how torsin affects cellular membranes composed of lipids. Furthermore, the
collaboration with the lab of professor Patrik Verstreken (VIB-KU Leuven)
enabled numerous experiments on fruit flies. But although these tiny creatures
have much more similarities with humans than meets the eye, research on mammals
is crucial as well.
Prof. Rose Goodchild (VIB-KU Leuven): "We have already started
exploring dystonia mutation in mouse neurons. This will help us understand
dystonia in humans. However, much more research is still to be carried out. It
is our mission to find the exact pathway between a faulty gene and the neuronal
defects. And, in time, we aim to develop therapeutic approaches that intervene
in this pathway."