Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Study finds link between common neurological disorder and Alzheimer’s disease

22.08.2002


A new study by scientists at The Wistar Institute links the genes responsible for neurofibromatosis, a common neurological disorder, to a protein thought to play a role in Alzheimer’s disease.



In establishing a connection between the two diseases, the research opens new lines of thinking for investigators studying both diseases, while also providing basic biological insights into vital cellular processes. A report on the study was published electronically on August 20 in the Journal of Biological Chemistry.

The protein shared by neurofibromatosis and Alzheimer’s disease is kinesin-1, known to be pivotal to protein trafficking, which is the movement of various needed proteins from one part of a cell to another. Neurons are characterized by long arms called processes that extend away from the cell body, and under normal circumstances proteins move along a system of microtubules to reach all parts of the neuron. Problems with the internal transport of proteins can lead to neuronal malfunction and death.


"This protein, kinesin-1, is like a locomotive that pulls cargo throughout the cell," says Ramin Shiekhattar, Ph.D., an associate professor at The Wistar Institute and senior author on the study. "In neurons, it pulls its cargo down microtubules, which can be thought of like the rails for the locomotive. Kinesin-1 is vital for efficient protein trafficking within neurons and other cells, and it’s of great interest to us to find it linked to the genes that cause neurofibromatosis."

The two genes linked to the disease are among the most commonly mutated genes in the entire human genome. The primary neurofibromatosis-related gene, called NF1, or neurofibromin, was identified in the early 1990s by Francis S. Collins, M.D., Ph.D., now director of the National Human Genome Research Institute. Another less common gene linked to the same disorder is called NF2, or merlin. Since the discovery of these genes, however, most aspects of their activity in the body and in neurofibromatosis have remained a mystery.

Neurofibromatosis is a common disorder, more prevalent than cystic fibrosis, muscular dystrophy, Huntington’s disease, and Tay-Sachs disease combined. It can cause tumors along nerves throughout the body and can affect the development of non-nervous tissues such as bones and skin. The disease can also cause learning disabilities of differing severity. While most cases of neurofibromatosis are mild to moderate, it can lead to disfigurement, blindness, deafness, skeletal abnormalities, retardation, and tumors of the skin, spine, and brain.

In the current study, the Wistar researchers used the tools of biochemistry to identify distinct NF1- and NF2-containing protein complexes in the nucleus and the cytoplasm of cells. An analysis by mass spectrometry of the nuclear complex revealed four subunits, one of which was kinesin-1.

"Kinesin-1 is the real engine of this protein complex," Shiekhattar says.

Unrelated recent studies have also shown that kinesin-1 interacts with a protein called amyloid precursor protein, of APP, which has been implicated in Alzheimer’s disease, a major cause of dementia in older people.

"If kinesin-1 is the locomotive, then APP’s role appears to be to hook the cargo to the locomotive," Shiekhattar explains. "Finding kinesin-1 in protein complexes that also contain NF1 and NF2 clearly ties neurofibromatosis and Alzheimer’s disease to a common cellular pathway."


The lead author on the Journal of Biological Chemistry study is Mohamed-Ali Hakimi, Ph.D., at The Wistar Institute. Wistar professor David W. Speicher, Ph.D., collaborated on the study. This research was supported by grants from National Institutes of Health.

The Wistar Institute is an independent nonprofit biomedical research institution dedicated to discovering the causes and cures for major diseases, including cancer, cardiovascular disease, autoimmune disorders, and infectious diseases. Founded in 1892 as the first institution of its kind in the nation, The Wistar Institute today is a National Cancer Institute-designated Cancer Center - one of only eight focused on basic research. Discoveries at Wistar have led to the development of vaccines for such diseases as rabies and rubella, the identification of genes associated with breast, lung, and prostate cancer, and the development of monoclonal antibodies and other significant research technologies and tools.

Franklin Hoke | EurekAlert!
Further information:
http://www.wistar.upenn.edu

More articles from Health and Medicine:

nachricht Correct connections are crucial
26.06.2017 | Charité - Universitätsmedizin Berlin

nachricht One gene closer to regenerative therapy for muscular disorders
01.06.2017 | Cincinnati Children's Hospital Medical Center

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: Can we see monkeys from space? Emerging technologies to map biodiversity

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...

Im Focus: Climate satellite: Tracking methane with robust laser technology

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...

Im Focus: How protons move through a fuel cell

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...

Im Focus: A unique data centre for cosmological simulations

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...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

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)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Extensive Funding for Research on Chromatin, Adrenal Gland, and Cancer Therapy

28.06.2017 | Awards Funding

Predicting eruptions using satellites and math

28.06.2017 | Earth Sciences

Extremely fine measurements of motion in orbiting supermassive black holes

28.06.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>