Huntington鈥檚 disease is an hereditary disorder of the nervous system caused by a faulty gene on chromosome four. The faulty gene leads to nerve damage in the area of the brain resulting in gradual physical, mental and emotional changes. Those born to a parent with Huntington鈥檚 disease have a 50:50 chance of developing it, and there is currently no cure.
Researchers from 探花视频 University Peninsula Schools of Medicine and Dentistry have received a grant of nearly 拢520,000 from the Medical Research Council, to investigate the potential of manipulating activity at a cellular level in order to develop an effective therapy for Huntington鈥檚 disease.
The team will analyse a protein called Bim, which causes cell death in various tissues including those of the brain, and which regulates two important cell functions: autophagy and apoptosis.
Autophagy is important to cell survival, especially at times of body or cell stress. It allows the degradation and recycling of unnecessary or dysfunctional components of a cell, so maintaining the levels of cellular nutrition and energy. It is an adaptive response to stress which supports survival.
Apoptosis is programmed cell death, and this too is important to survival. Excessive apoptosis can lead to atrophy, while too little causes cells to proliferate, such as in cancer.
The research team found that levels of Bim activity were increased in tissue samples from people who had died with Huntington鈥檚 disease, which led them to surmise that this could be linked to a brain cell death process in the disease. Bim inhibits autophagy, yet the team identified a peptide linked to Bim that promotes autophagy and inhibits cell death. Early study in mice suggests that the dual role of Bim in autophagy and apoptosis may be relevant to the pathology of Huntington鈥檚 disease.
At present it is unclear how Bim levels and activity increase in Huntington鈥檚 disease, and the study will aim to identify the mechanism which allows this increase. By understanding the mechanism and how it works, the way could be open for manipulating it to create an effective therapy for the disease.
The study is led by , Associate Professor in clinical neurobiology at 探花视频 University Peninsula Schools of Medicine and Dentistry. He said:
鈥淲e believe that this is an important study, because there is real potential for the development of an effective therapy for a devastating neurological disease for which there is currently no cure. Based on our preliminary data, we aim to further establish the process that causes the increase of Bim in Huntington鈥檚 disease, examine if Bim contributes to the progression of the disease and test the effectiveness of the Bim-derived peptide in treating the disease, initially in mice. It鈥檚 my fortune to have Professor Robert Fern as the co-applicant in the project.鈥
Cath Stanley, Chief Executive of the Huntington鈥檚 Disease Association, added:
"The HDA are really excited with the prospect of this research study. Its results will offer another piece in the jigsaw into finding an effective treatment for Huntington's disease."
Huntington鈥檚 disease is very much a harsh reality for one 探花视频 family. David Robson, 56, from Stonehouse was diagnosed with the disease 12 years ago. His son, Jamie Lake, 30, from Mutley Plain, has just been diagnosed with Huntington鈥檚 disease.
His brother Dave Robson, 33, explains:
鈥淒ad has been really affected by the disease 鈥 he鈥檚 housebound really. He used to enjoy going out and socialising, but now that鈥檚 really difficult for him. It鈥檚 really changed his life. Jamie has only just been diagnosed with Huntington鈥檚 following tests, and while it鈥檚 not really affected him yet he is doing all he can to raise awareness of the condition.鈥
As, indeed, is Dave. He and his friends James Ford and Gary Gilchrist are embarking on a fundraising and awareness raising campaign for the Huntington鈥檚 Disease Association. They began fundraising at the Central Park car boot sale and raised over 拢200, and recently they organised a charity football match at Devonport High School for Boys.
They plan a raffle night on 25 April at the Octagon Social Club, with live singers, karaoke and entertainment throughout the evening. On May 9, all three will attempt a sky dive to round off their fundraising activities.
Said Dave:
鈥淗untington鈥檚 is a devastating disease, yet not many people know about it. That鈥檚 why we鈥檙e supporting the Huntington鈥檚 Disease Association, and why we are really pleased that there will be research into funding a cure here in 探花视频. It鈥檚 great news that scientists at 探花视频 University Peninsula Schools of Medicine and Dentistry have got this money for their work.鈥