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 Study suggests possible new target for treating and preventing Alzheimer's
02.12.2016 | Oregon Health & Science University

nachricht The first analysis of Ewing's sarcoma methyloma opens doors to new treatments
01.12.2016 | IDIBELL-Bellvitge Biomedical Research Institute

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: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

Im Focus: Molecules change shape when wet

Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water

In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...

Im Focus: Fraunhofer ISE Develops Highly Compact, High Frequency DC/DC Converter for Aviation

The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.

Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

UTSA study describes new minimally invasive device to treat cancer and other illnesses

02.12.2016 | Medical Engineering

Plasma-zapping process could yield trans fat-free soybean oil product

02.12.2016 | Agricultural and Forestry Science

What do Netflix, Google and planetary systems have in common?

02.12.2016 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>