Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Researchers describe novel gene mutations associated with Alzheimer disease


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

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 .

Sandro Sorbi | EurekAlert!
Further information:

More articles from Health and Medicine:

nachricht Inflammation Triggers Unsustainable Immune Response to Chronic Viral Infection
24.10.2016 | Universität Basel

nachricht Resolving the mystery of preeclampsia
21.10.2016 | Universitätsklinikum Magdeburg

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: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

All Focus news of the innovation-report >>>



Event News

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

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Oasis of life in the ice-covered central Arctic

24.10.2016 | Earth Sciences

‘Farming’ bacteria to boost growth in the oceans

24.10.2016 | Life Sciences

Light-driven atomic rotations excite magnetic waves

24.10.2016 | Physics and Astronomy

More VideoLinks >>>