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BREAKTHROUGH FOR BRAIN DISEASE RESEARCH
For the victims and their families, any deterioration of the brain through illness can be devastating. But now a major advance in the understanding and potential treatment of Huntington’s disease has been made by scientists.
Researchers in the University of Leeds’ Faculty of Biological Sciences have discovered that one of the body’s naturally occurring proteins is preventing 57 genes from operating normally in the brains of Huntington’s sufferers.
In addition, the destructive nature of this protein could be halted, possibly, by applying drugs that are already being used to help cancer patients.
“This is a really exciting breakthrough,” said researcher Dr. Lezanne Ooi. “It is early days but we believe our research could lead to radical changes in treatment for Huntington’s sufferers. The fact that these cancer drugs have already been through the clinical trials process should speed up the time it takes for this research to impact directly on patients.”
Huntington’s disease (HD) is an inherited degenerative neurological condition that affects between 6,500 and 8,000 people in the UK and up to eight out of every 100,000 in western countries.
Any person whose parent has HD has a 50-50 chance of inheriting the faulty gene that causes it and everyone with the defective gene will, at some point, develop the disease.
It is characterised by a loss of neurons in certain regions of the brain and progressively affects a sufferer’s cognition, personality and motor skills. In its later stages, sufferers almost certainly require continual nursing care. Secondary diseases, such as pneumonia, are the cause of death, rather than HD.
The research has identified the effects of one of the body’s proteins on the neurons of HD sufferers. Neurons are usually protected by the protein BDNF (brain derived neurotrophic factor) whose many functions also include encouraging the growth and differentiation of new neurons and synapses.
But in Huntington’s sufferers, a repressor protein (known as REST, usually found only in certain regions of the brain) enters the nucleus of the neuron and decreases the expression of BDNF.
Dr. Ooi has also been studying some of the enzymes that assist the function of this protein. It is these enzymes that provide the mechanism for the protein to wreak havoc in the brains of sufferers and that are already being targeted in certain cancer drugs.
Today, the symptoms of the illness can be managed through medication to help with loss of motor control and speech therapy but there is no definitive treatment. This research provides a first step in developing a treatment regime that may halt the onset of the disease.
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Hope of treatment: Huntington’s disease is a devastating brain illness that affects whole families, says Cath Stanley (pictured) of the Huntington’s Disease Association. Now, researchers have found a possible treatment with drugs already being used to help cancer patients. |
“Huntington’s is a devastating illness that affects whole families,” said Cath Stanley, head of Care Services at the Huntington’s Disease Association. “Those who know they have inherited the faulty gene live in a shadow of uncertainty over how long before their symptoms start to develop. It can also be particularly cruel because every child born to a parent that has the HD gene is at 50 per cent risk of having inherited the gene.
“Any developments in the understanding of this disease are welcome but this breakthrough is particularly exciting as it opens an avenue for researching a possible treatment using drugs that are already available, rather than starting from scratch,” she added.
The research was funded by the Wellcome Trust and carried out in collaboration with the University of Milan, Italy, and King’s College, London. The paper has been published in the Journal of Neuroscience.
Dr. Lezanne Ooi is a postdoctoral researcher working in the laboratory of Dr. Ian Wood in the Institute of Membrane & Systems Biology at Leeds University. Her main research interests are in gene expression and the regulation of gene expression in the vasculature and nervous systems.
Dr. Ooi’s work focused on the REST (short for repressor element-1 silencing transcription) factor that is a repressor protein that regulates gene expression, the conversion of a gene’s DNA sequence into a functional protein.
Huntington’s is caused by the insert of an extra sequence in one gene on chromosome 4; longer inserts correlate with greater severity of the disease. The insert is called a polyglutamine tract and it occurs in the huntingtin [correct] protein.
The University of Leeds’ Faculty of Biological Sciences is one of the largest in the UK, with nearly 150 academic staff and more than 400 postdoctoral fellows and postgraduate students.
The Leeds faculty’s active research grant portfolio is about 60 million pounds and its funders include charities, research councils, the European Union and industry. The faculty has an outstanding research record and all major units of assessment were awarded Grade 5 in the last government (HEFCE) research assessment exercise (www.fbs.leeds.ac.uk)
The Huntington’s Disease Association (HDA) exists to help people affected by the disease and to provide information and advice to professionals whose task it is to support affected families.
The association is financed through the generosity of trusts, foundations, statutory and corporate sectors, branches of the HDA, members and friends. The HDA also promotes and funds medical and social research.
By Ray Cooling
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