New genetic research demonstrates possible cause of inherited form of Parkinson’s disease
Columbia University Medical Center and Albert Einstein College of Medicine researchers have identified a possible cause of an inherited form of Parkinson’s disease, which may be related to more common forms of the disease. The findings are reported in the August 27, 2004 issue of Science.
While the cause of most cases of Parkinson’s disease is unknown, a few cases are inherited and can be traced to mutations in four different genes, including the alpha-synuclein gene. This is the first study that may pinpoint the mechanism by which the mutant gene initiates a cascade of events that causes this devastating neurological disease.
"This discovery could aid in the development of new, targeted treatments to slow or stop the disease progression," said David Sulzer, Ph.D., professor of neurology and psychiatry at Columbia University College of Physicians and Surgeons and senior author of the study. "This is an extension of the genetic research that discovered the mutant alpha-synuclein gene and it is exciting to see how this information can be used to possibly determine the cause of Parkinson’s disease."
Blockage Causes Neuron Death
Neurons that release dopamine, the neurotransmitter that controls coordinated movement, slowly die in people with Parkinson’s disease, causing progressively more limited mobility and speech. Results of the new research indicate that in patients with a mutant alpha-synuclein gene, Parkinson’s disease may be caused by a blockage within dopamine neurons.
In the study, the mutant forms of alpha-synuclein protein was shown to bind to protein disposal sites within dopamine neurons. This creates a blockage that leads to the eventual death of the neurons. The study was conducted in dopamine neurons taken from mice.
Dr. Sulzer likens the situation to a garbage truck stalling at the entrance to the town dump. "If the truck breaks down right in front of the dump, not only does it fail to deliver its own garbage to the dump, but it blocks all the other garbage trucks and the town fills up with garbage," said Dr. Sulzer.
Together with Ana Maria Cuervo, M.D., Ph.D., assistant professor of anatomy and structural biology at Albert Einstein College of Medicine and the study’s lead author, Dr. Sulzer is now using the study’s findings to examine whether a backup at the protein disposal sites also plays a key role in the most common idiopathic form of Parkinson’s, which has no known cause.
"These patients do not carry a mutant alpha-synuclein gene, but their alpha-synuclein proteins bear modifications not seen in healthy people that may cause the protein to act as the mutant does," said Dr. Sulzer.
Elizabeth Streich | EurekAlert!
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.
Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...
Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.
Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...
Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.
As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...
Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.
With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...
Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine
Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...