Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers describe novel gene mutations associated with Alzheimer disease

18.11.2003


Three mutations in genes associated with Alzheimer disease (AD) are described by researchers in the November issue of The Archives of Neurology, one of the JAMA/Archives journals.



Alzheimer disease (AD) is a complex neurodegenerative disorder often affecting the elderly and characterized by gradual loss of memory and cognitive decline, according to the article. AD is often accompanied by a buildup of certain proteins or plaques in the brain. Since 1991, the results of genetic studies have led to the identification of gene mutations and variations that can either cause AD or increase the risk for developing the disease. Familial Alzheimer disease (FAD), which accounts for approximately 5 percent to 10 percent of all cases of AD, has been found to influenced by mutations on genes coding for presenilin. Presenilin is a protein that has been associated with plaque formation.

Sandro Sorbi, M.D., of the University of Florence, Italy and colleagues obtained DNA samples from 45 individuals with FAD. Participants were outpatients from the neurology departments at the Universities of Florence and Parma, and the Santa Maria Nuova Hospital in Reggio Emilia, Italy. The authors conducted genetic studies to screen certain genes for mutations associated with FAD.


The researchers identified several families carrying presenilin mutations. They found one presenilin gene mutation associated with variable age of onset AD (from 35 to 85 years old) in one family, and found two new presenilin gene mutations associated with early onset AD at age 49 to 54 years old in two other unrelated Italian families.

"In conclusion, results of this study confirm and extend the concept that the clinical manifestation of PS1 and PS2 [presenilin genes] mutations may be typical for AD and more similar to other dementias," write the authors.

"In addition, the identification of new mutations is important, particularly for developing diagnostic testing programs based on the frequency of mutations in specific populations and for further enlarging out understanding of the great variability of [familial Alzheimer disease]," the researchers write.


(Arch Neurol. 2003;60:1541-1544. Available post embargo at archneurol.com)

Editor’s Note: This study was supported by a grant from the Ministero dell’Universita e della Ricerca Scientifica e Tecnologica, Rome, Italy; a grant from the Telethon Fondazione Onlus, Rome; and grants from the European Union.

For more information, contact JAMA/Archives Media Relations at 312-464-JAMA (5262) or e-mail mediarelations@jama-archives.org .


Sandro Sorbi | EurekAlert!
Further information:
http://archneurol.com

More articles from Health and Medicine:

nachricht Millions through license revenues
27.04.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht New High-Performance Center Translational Medical Engineering
26.04.2017 | Fraunhofer ITEM

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: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

Bare bones: Making bones transparent

27.04.2017 | Life Sciences

Study offers new theoretical approach to describing non-equilibrium phase transitions

27.04.2017 | Physics and Astronomy

From volcano's slope, NASA instrument looks sky high and to the future

27.04.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>