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Wednesday, 14 August 2013

The origin of Huntington's disease

Main Category: Huntingtons Disease
Article Date: 14 Aug 2013 - 0:00 PDT Current ratings for:
The origin of Huntington's disease
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The synapses in the brain act as key communication points between approximately one hundred billion neurons. They form a complex network connecting various centres in the brain through electrical impulses. New research from Lund University suggests that it is precisely here, in the synapses, that Huntington's disease might begin.

The researchers at Lund University looked into the brains of mice with real-time imaging methods, following some of the very first stages of the disease through advanced microscopes. What they discovered was an unprecedented degradation of synaptic activity. Long before the well documented nerve cell death, synapses that are important for communication between brain centres that control memory and learning begin to wither. This process has never been mapped before and could be an important step towards understanding the serious non-motor symptoms that affect Huntington patients long before the movement disorders start to show.

"With the naked eye, we have now been able to follow the step by step events when these synapses start to break down. If we are to halt or reverse this process in the future, it is necessary to understand exactly what happens in the initial phase of the disease. Now we know more", says Professor Jia-Yi Li, the research group leader. Huntington's disease has long been characterized by the involuntary writhing movements faced by patients. But in fact, Huntington's has a very broad and highly individual symptomatology. Depression, memory loss and sleep disorders are all common early on in the disease.

"Many patients testify that these symptoms affect quality of life significantly more than the involuntary jerky movements. Therefore, it is extremely important that we achieve progress in this field of research. Our goal now is to find new therapies that can increase the lifespan of these synapses and maintain their vital function", explains postdoc Reena, who lead the imaging experiments.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our huntingtons disease section for the latest news on this subject.

R. P. Murmu, W. Li, A. Holtmaat, J.-Y. Li. Dendritic Spine Instability Leads to Progressive Neocortical Spine Loss in a Mouse Model of Huntington's Disease. Journal of Neuroscience, 2013; 33 (32): 12997 DOI: 10.1523/%u200BJNEUROSCI.5284-12.2013

Lund University

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Thursday, 1 August 2013

Essential clue to Huntington's disease solution found by McMaster researchers

Main Category: Huntingtons Disease
Article Date: 31 Jul 2013 - 1:00 PDT Current ratings for:
Essential clue to Huntington's disease solution found by McMaster researchers
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Researchers at McMaster University have discovered a solution to a long-standing medical mystery in Huntington's disease (HD).

HD is a brain disease that can affect 1 in about 7,000 people in mid-life, causing an increasing loss of brain cells at the centre of the brain. HD researchers have known what the exact DNA change is that causes Huntington's disease since 1993, but what is typically seen in patients does not lead to disease in animal models. This has made drug discovery difficult.

In this week's issue of the science journal, the Proceedings of the National Academy of Sciences, professor Ray Truant's laboratory at McMaster University's Department of Biochemistry and Biomedical Sciences of the Michael G. DeGroote School of Medicine reveal how they developed a way to measure the shape of the huntingtin protein, inside of cell, while still alive. They then discovered was that the mutant huntingtin protein that causes disease was changing shape. This is the first time anyone has been able to see differences in normal and disease huntingtin with DNA defects that are typical in HD patients.

They went on to show that they can measure this shape change in cells derived from the skin cells of living Huntington's disease patients.

"With mouse models, we know that some drugs can stop, and even reverse Huntington's disease, but now we know exactly why," said Truant. "The huntingtin protein has to take on a precise shape, in order to do its job in the cell. In Huntington's disease, the right parts of the protein can't line up to work properly. It's like trying to use a paperclip after someone has bent it out of shape."

The research also shows that the shape of disease huntingtin protein can be changed back to normal with chemicals that are in development as drugs for HD.

"We can refold the paper clip," said Truant.

The methods they developed have been scaled up and used for large scale robotic drug screening, which is now ongoing with a pharmaceutical company. They are looking for drugs that can enter the brain more easily. Furthermore, they can tell if the shape of huntingtin has been corrected in patients undergoing drug trials, without relying on years to know if the HD is affected yet.

This research was a concerted effort from many sources: funding from the Canadian Foundation Institute and the Ontario Innovation Trust for an $11M microscopy centre at McMaster in 2006, ongoing support from the Canadian Institutes of Health Research, and important funding from the Toronto-based Krembil Foundation. The project was initiated with charity grant support from the Huntington Society of Canada, which allowed them to show this method was promising for further support.

The last piece of the puzzle was from the Huntington's disease patient community, with skin cell donations from living patients and unaffected spouses that allowed the team to look at real human disease.

There are eight other diseases that have a similar DNA defects as Huntington's disease, Truant's group is now using similar tools to develop assays to measure shape changes in those diseases, to see if this shapeshifting is common in other diseases.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our huntingtons disease section for the latest news on this subject.

Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin, Nicholas Stephane Caron, Carly Robyn Desmond, Jianrun Xia, and Ray Truant, doi: 10.1073/pnas.1301342110 PNAS July 29, 2013

McMaster University