Researchers discover previously unknown function of Huntingtons protein
Monash University researchers have been awarded a coveted medical research contract to discover a previously unknown function of Huntingtons disease (HD) one of the most devastating and disabling neurodegenerative diseases.
Dr Stephen Westhoff from Monash Medical Research Institute (MMI) in Australia and a team of researchers have been awarded a multi-million dollar grant from the National Health and Medical Research Fund of Australia through the BRAIN Initiative to ensure discoveries are made that include Alzheimers disease and other neurodegenerative diseases such as Parkinsons disease.
The teams research published in PLOS One found that the protein HTT1 binds to DNA in the cells of individuals suffering from Huntingtons disease. This is the first time that HTT1 has been implicated as a possible therapeutic target for HD.
A giant leap for the team.
Dr Westhoff who is also a Professor of Biological Sciences at the University of Reading said the discovery of HTT1s biological role in HD amazes him. We are not trying to play God here. We are just trying to do the reasonable thing and stop the disease from getting into our system. At present we have no cure or treatment for HD that works like this.
HD is the most common neurodegenerative disease in the Western world affecting an estimated one to two American every day. It is characterized by a protein overdose and early death. Huntingtons disease is the most common gene mutation discovered to date accounting for 90 per cent of cases; HD is characterised by a large number of genetic defects those that affect both brain structure and motor function.
Unlike other genetic diseases such as Tay-Sachs disease which has effects on motor coordination HD treatment options are limited to organ transplants. With no treatment option similar to the one available for the rapidly deteriorating Alzheimers disease babies are left at risk of serious health problems often stunting development.
Dr Westhoff said identifying HTT1 as a therapeutic target offers new hope for those who suffer from HD.
The big positive is that we are getting an access to a new therapeutic target at which point no or very few patients die something that we havent been able to do in the past he said. It highlights the importance of simply showing that one of the things that this research tackles is treating the disease as a human disease and that is a very hard clinical challenge as well as a medical one.