Navigation Links
Huntington's disease discovery provides new hope for treatment

Australian scientists have identified the behaviour of the mutant protein 'huntingtin' which leads to the fatal Huntington's disease providing potential targets to treat the disease, a University of Melbourne study reveals.

Huntington's disease is a genetic disease with no cure, characterized by a steady decline in motor control and the dysfunction and death of brain cells. The cause of the disease has long baffled scientists.

Symptoms tend to first appear when the person is in their thirties or forties. The most common symptom is jerky movements of the arms and legs. A person with Huntington's disease may also have difficulties with speech, swallowing and concentration.

Using state of the art technology, Dr Danny Hatters and his colleagues at the University of Melbourne's Department of Biochemistry and Molecular Biology at the Bio 21 Institute observed how human mutant 'huntingtin' proteins form into large clumps, which kills brain cells and leads to progressed Huntington's disease.

"Steps prior to the clustering of the mutated proteins were thought to damage cells, but these steps were not clearly detectable under a microscope," Dr Hatters says.

"Understanding this process and finding the right target to block the ultimate death of the brain cells has been extremely difficult to determine," he says.

The technology called analytical ultracentrifugation and the methodology the researchers developed enabled them to visualize this process in much greater detail.

"What we have shown and are the first to show, is that mutated huntingtin protein forms three different sized clusters in the damaged cells," he says.

"This discovery will help to develop a targeted treatment that shuts down the key processes causing the clusters to form and for the disease to progress."

While researchers previously thought that small clusters of the mutant protein kept accumulating over time until they overwhelmed and killed the brain cells, Dr Hatters' team found that these clusters were static, which means they form in a more unpredictable manner than previously thought.

The discovery reveals the clusters place a steady stress on cells over time rather than steadily building up over time to some critical "toxic" level as previously thought.

"Why it takes so long for the cells to die in human disease is not known - however it could be that cells eventually cannot compensate anymore from the process where toxicity is built up to form one cluster called oligomers," he says.

"The real key of our work is that we now have direct targets in the critical steps in the process of cell toxicity and death and to gauge any therapeutic effects of drugs on these targets. We can also measure how this alleviates cellular toxicity and brain cell death.'

"Importantly our research techniques could have application in assisting to find drug targets for other neurodegenerative diseases where toxic clusters of proteins play a role in the progression of the disease, such as for Parkinson's disease."


Contact: Rebecca Scott
University of Melbourne

Related biology news :

1. UM researcher identifies novel treatment for pain in sickle cell disease
2. U of T researchers find link between childhood physical abuse and heart disease
3. Protein important in diabetes may also play a key role in heart disease, other disorders
4. Research results confirm need for protection against ticks that carry Lyme disease
5. Dairy farmers can fight growing disease threat with chlorine and stainless steel
6. Disease genes that followed the Silk Road identified
7. Scientists discover clues to inflammatory disease
8. Waterborne diseases could cost over $500 million annually in US
9. Plavix may be treatment for dogs at risk of thromboembolic disease
10. Modulator of fetal hemoglobin switch may target sickle cell disease
11. Mount Sinai researchers discover new way diseases develop
Post Your Comments:
(Date:10/26/2015)... and LAS VEGAS , ... Nok Labs , an innovator in modern authentication and ... today announced the launch of its latest version of ... platform enabling organizations to use standards-based authentication that supports ... Nok S3 Authentication Suite is ideal for organizations deploying ...
(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 ...
(Date:10/22/2015)... 2015 About fingerprint biometrics ... individual with the database to identify and verify an ... loop. Pattern-based algorithms are used to match an individual,s ... was introduced in 1986, which is being used by ... criminal. Technavio,s analysts forecast the global fingerprint ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... ... November 24, 2015 , ... The Academy of Model Aeronautics (AMA), ... MultiGP, also known as Multirotor Grand Prix, to represent the First–Person View (FPV) racing ... AMA members have embraced this type of racing and several new model aviation pilots ...
(Date:11/24/2015)... QUEBEC CITY , Nov. 24, 2015 /PRNewswire/ ... (the "Company") announced today that the remaining 11,000 ... Common Share Purchase Warrants (the "Series B Warrants") ... agreement were exercised on November 23, 2015, which ... Common Shares.  After giving effect to the issuance ...
(Date:11/24/2015)... ... November 24, 2015 , ... Creation Technologies would like ... to Deloitte's 2015 Technology Fast 500 list of the fastest growing companies in ... Class II medical device that speeds up orthodontic tooth movement by as much ...
(Date:11/24/2015)... INCLINE VILLAGE, Nev. , Nov. 24, 2015  PDL ... John P. McLaughlin , the company,s president and chief ... Piper Jaffray Healthcare Conference next week in New ... and will occur on Tuesday, December 1, 2015 at 9:30 ... and Presentations." Please connect to the website at least 15 ...
Breaking Biology Technology: