Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify ALS gene mutation

02.03.2009
Early study is key to latest discovery

Research that has discovered a new gene whose mutations cause 5 percent of inherited cases of ALS (amyotrophic lateral sclerosis) is part of a national study led by the Northwestern University Feinberg School of Medicine.

The study reported in Science today (Feb. 27) points to a common cellular deficiency in the fatal neurological disorder, said Teepu Siddique, M.D., Les Turner ALS Foundation/Herbert C. Wenske Foundation Professor in the Davee Department of Neurology and Clinical Neurosciences and Department of Cell and Molecular Biology and Director of the Division of Neuromuscular Medicine at the Feinberg School.

The new research is part of a national collaboration directed by Siddique, the principal investigator for the "Genetics of ALS" project funded at Feinberg by the National Institutes of Health.

Earlier research by Siddique and colleagues extended the genetic knowledge of familial (inherited) ALS by identifying the first and second ALS genes (the SOD1 gene in 1993 and the ALSIN gene in 2001), in addition to identifying loci on chromosomes 9, 15, 16, and X.

The study published today discovered aFUS/TLS gene mutations in ALS families collected through efforts of the NIH-funded multi-center project and included among others a large Italian family previously studied by Siddique and Cortelli.

ALS affects the motor neurons in the central nervous system. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually death from respiratory failure. The cause of most cases of ALS is not known.

"The purpose of this national study is to understand what triggers the death of motor neurons in order to find new cellular models of ALS, with the ultimate goal of advancing research that leads to a treatment for this fatal disease," Siddique said. "Approximately 10 percent of ALS cases are inherited."

"The discovery of this gene mutation shows new kinds of molecular defects that damage motor neurons and it implicates defective pathways previously identified in other genetic forms of ALS," said Siddique.

Charles Loebbaka | EurekAlert!
Further information:
http://www.northwestern.edu
http://www.northwestern.edu/newscenter/

More articles from Health and Medicine:

nachricht Scientists learn more about how gene linked to autism affects brain
19.06.2018 | Cincinnati Children's Hospital Medical Center

nachricht Overdosing on Calcium
19.06.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

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: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

Creating a new composite fuel for new-generation fast reactors

20.06.2018 | Materials Sciences

Game-changing finding pushes 3D-printing to the molecular limit

20.06.2018 | Materials Sciences

Could this material enable autonomous vehicles to come to market sooner?

20.06.2018 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>