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 3D images of cancer cells in the body: Medical physicists from Halle present new method
16.05.2018 | Martin-Luther-Universität Halle-Wittenberg

nachricht Better equipped in the fight against lung cancer
16.05.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

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: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Designer cells: artificial enzyme can activate a gene switch

22.05.2018 | Life Sciences

PR of MCC: Carbon removal from atmosphere unavoidable for 1.5 degree target

22.05.2018 | Earth Sciences

Achema 2018: New camera system monitors distillation and helps save energy

22.05.2018 | Trade Fair News

VideoLinks
Science & Research
Overview of more VideoLinks >>>