Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

International team discovers novel Alzheimer's disease risk gene among Icelanders

24.10.2016

Scientists at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital are part of a multicenter collaborative study that has identified a novel genetic risk factor for late-onset Alzheimer's disease. The study appears in the journal PLoS Genetics.

Alzheimer's disease is the most common cause of dementia among older adults, and the presence of certain genetic variants increases an individual's risk for developing this disease.


This is a wild-type Drosophila a. (top) and human TM2D3 (middle) genomic constructs rescue the aberrant nervous system overgrowth seen in embryos laid by mutant females (bottom, no rescue construct). Blue: nuclei, Green: membranes, Red: cytoskeleton.

Credit: S. Yamamoto, J. Schuman, H. Bellen, Baylor College of Medicine

Baylor researchers Dr. Shinya Yamamoto, assistant professor of molecular and human genetics; Dr. Joshua M. Shulman, assistant professor of neurology, neuroscience, and molecular and human genetics, and Dr. Hugo J. Bellen, professor and director of the program in developmental biology and also an investigator at the Howard Hughes Medical Institute, were part of an international team that analyzed samples from 1,393 subjects with late-onset Alzheimer's disease and compared the results with those of 8,141 neurologically healthy individuals.

The consortium found a variant in TM2D3, a gene that has never been studied in human or other vertebrate species. Interestingly, while the probability of this variant was very rare among people of European ancestry, it was significantly enriched among Icelanders (but still less than 1 percent frequency). The researchers estimated that carriers of this variant would have an approximately six-fold increased risk of developing Alzheimer's disease.

To further understand the impact of the discovered mutation and its potential link to processes that lead to Alzheimer's disease, the Baylor researchers studied the function of TM2D3 in the fruit fly model system.

They found that loss-of-function of theTM2D3 gene causes abnormal development of the fly's nervous system. They next showed that human normal TM2D3 could functionally substitute for its fly counterpart and rescue the neurodevelopmental defect, whereas introduction of the Alzheimer's disease-associated variant was unable to restore the normal function.

In summary, this study has identified a novel, rare genetic variant in the TM2D3 gene to be a risk factor in the development of late-onset Alzheimer's disease among Icelanders. This gene has not been previously linked to Alzheimer's, andresearchers are hopeful that further investigations may lead to new and more effective therapies.

###

Other Baylor contributors to this work are Dr. David Li-Kroeger, postdoctoral fellow in the Bellen Lab, José Salazar, graduate student in the Bellen Lab, and Dr. Eric Boerwinkle at Baylor's Human Genome Sequencing Center.

Media Contact

Allison Huseman
allison.huseman@bcm.edu
713-798-4710

 @bcmhouston

https://www.bcm.edu/news 

Allison Huseman | EurekAlert!

More articles from Life Sciences:

nachricht Microscope measures muscle weakness
16.11.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

nachricht Good preparation is half the digestion
16.11.2018 | Max-Planck-Institut für Stoffwechselforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: UNH scientists help provide first-ever views of elusive energy explosion

Researchers at the University of New Hampshire have captured a difficult-to-view singular event involving "magnetic reconnection"--the process by which sparse particles and energy around Earth collide producing a quick but mighty explosion--in the Earth's magnetotail, the magnetic environment that trails behind the planet.

Magnetic reconnection has remained a bit of a mystery to scientists. They know it exists and have documented the effects that the energy explosions can...

Im Focus: A Chip with Blood Vessels

Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.

Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...

Im Focus: A Leap Into Quantum Technology

Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.

In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...

Im Focus: Research icebreaker Polarstern begins the Antarctic season

What does it look like below the ice shelf of the calved massive iceberg A68?

On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.

Im Focus: Penn engineers develop ultrathin, ultralight 'nanocardboard'

When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure

Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“3rd Conference on Laser Polishing – LaP 2018” Attracts International Experts and Users

09.11.2018 | Event News

On the brain’s ability to find the right direction

06.11.2018 | Event News

European Space Talks: Weltraumschrott – eine Gefahr für die Gesellschaft?

23.10.2018 | Event News

 
Latest News

Good preparation is half the digestion

16.11.2018 | Life Sciences

Microscope measures muscle weakness

16.11.2018 | Life Sciences

NASA keeps watch over space explosions

16.11.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>