Navigation Links
Shining light on neurodegenerative pathway

University of Adelaide researchers have identified a likely molecular pathway that causes a group of untreatable neurodegenerative diseases, including Huntington's disease and Lou Gehrig's disease.

The group of about 20 diseases, which show overlapping symptoms that typically include nerve cell death, share a similar genetic mutation mechanism ‒ but how this form of mutation causes these diseases has remained a mystery.

"Despite the genes for some of these diseases having been identified 20 years ago, we still haven't understood the underlying mechanisms that lead to people developing clinical symptoms," says Professor Robert Richards, Head of Genetics in the University's School of Molecular and Biomedical Sciences.

"By uncovering the molecular pathway for these diseases, we now expect to be able to define targets for intervention and so come up with potential therapies. Ultimately this will help sufferers to reduce the amount of nerve cell degeneration or slow its progression."

In an article published in Frontiers in Molecular Neuroscience, Professor Richards and colleagues describe their innovative theory and new evidence for the key role of RNA in the development of the diseases. RNA is a large molecule in the cell that copies genetic code from the cell's DNA and translates it into the proteins that drive biological functions.

People with these diseases all have expanded numbers of copies of particular sequences of the 'nucleotide bases' which make up DNA.

"In most cases people with these diseases have increased numbers of repeat sequences in their RNA," says Professor Richards. "The disease develops when people have too many copies of the repeat sequence. Above a certain threshold, the more copies they have the earlier the disease develops and the more severe the symptoms. The current gap in knowledge is why having these expanded repeat sequences of genes in the RNA translates into actual symptoms."

Professor Richards says evidence points towards a dysfunctional RNA and a pivotal role of the body's immune system in the development of the disease.

"Rather than recognising the 'expanded repeat RNA' as its own RNA, we believe the 'expanded repeat RNA' is being seen as foreign, like the RNA in a virus, and this activates the innate immune system, resulting in loss of function and ultimately the death of the cell," he says.

The University of Adelaide laboratory modelled and defined the expanded repeat RNA disease pathway using flies (Drosophila). Other laboratories have reported tell-tale, but previously inexplicable, signs characteristic of this pathway in studies of patients with Huntington's disease and Myotonic Dystrophy.

"This new understanding, once proven in each of the relevant human diseases, opens the way for potential treatments, and should give cause for hope to those with these devastating diseases," Professor Richards says.


Contact: Robert Richards
University of Adelaide

Related biology news :

1. Recent highlights in Molecular Biology and Evolution
2. Lab-on-a-chip tech, brain mapping & microbiome highlighted at translational med meeting
3. Research highlights from ICAAC meeting
4. Survey highlights barriers to interdisciplinary environmental science
5. Rutgers study: Worms may shed light on human ability to handle chronic stress
6. AGU journal highlights -- Aug. 13, 2013
7. Family matters: Evolutionary relationships among species of magic mushrooms shed light on fungi
8. Montana State University researchers highlight bears use of Banff highway crossings
9. Light that moves and molds gels
10. Study highlights possible new approach to prostate cancer treatment
11. Controlling genes with light
Post Your Comments:
(Date:10/27/2015)... Munich, Germany , ... (ASGM) automatically maps data from mobile eye tracking videos ... so that they can be quantitatively analyzed with SMI,s ... Germany , October 28-29, 2015. SMI,s Automated Semantic ... eye tracking videos created with SMI,s Eye Tracking ...
(Date:10/26/2015)... and LAS VEGAS , Oct. 26, ... , an innovator in modern authentication and a founding ... the launch of its latest version of the Nok ... organizations to use standards-based authentication that supports existing and ... Authentication Suite is ideal for organizations deploying customer-facing applications ...
(Date:10/23/2015)... California , October 23, 2015 ... (SMI) announce a mobile plug and play integration of ... real-world tasks SensoMotoric Instruments (SMI) present ... wearable solutions for eye tracking and physiological data registration. ... SMI Eye Tracking Glasses 2w and physiological ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... IN (PRWEB) , ... November 24, 2015 , ... The ... newest Special Interest Group (SIG), MultiGP, also known as Multirotor Grand Prix, to represent ... the last few years. Many AMA members have embraced this type of racing and ...
(Date:11/24/2015)... TEL AVIV, Israel , Nov. 24, 2015  Tikcro Technologies Ltd. ... be held on December 29, 2015 at 11:00 a.m. Israel ... & Co., Electra Tower, 98 Yigal Allon Street, 36 th Floor, ... , election of Eric Paneth and Izhak Tamir ... and Rami Skaliter as external directors; , approval of an ...
(Date:11/24/2015)... Urdorf, Switzerland (PRWEB) , ... November 24, 2015 ... ... the plant and the environment are paramount. Insertion points for in-line sensors can ... TOLEDO has developed the InTrac 781/784 series of retractable sensor housings , ...
(Date:11/24/2015)... 24, 2015 /CNW Telbec/ - ProMetic Life Sciences Inc. (TSX: ... Mr. Pierre Laurin , President and Chief Executive Officer ... upcoming Piper Jaffray 27 th Annual Healthcare Conference to ... 1-2, 2015. st , at 8.50am (ET) ... throughout the day. The presentation will be available live via ...
Breaking Biology Technology: