Seeking Answers For A Rare Brain Disease
First Published: Investigator - July 2007
A team of researchers and counsellors at Flinders Medical Centre (FMC) are attempting to provide better outcomes for individuals with a rare neurological condition called Huntington’s disease.
Huntington’s is a hereditary disease caused by a gene defect that triggers the death of brain cells in the central region of the brain, the basal ganglia, which controls motor function, cognition and emotions.
Currently there is no cure for the disease, but symptoms can be managed with medication and care. The symptoms usually develop later in life, however the severity and progression differ in each case. Most sufferers will eventually exhibit uncontrolled movements and eating and mobility may become an issue, whereas full time care is required.
Flinders researchers Dr Xin-Fu Zhou and PhD student Miss Linyan Wu are looking into the mechanisms that lead to Huntington’s disease in the hopes of improving treatments.
In Huntington’s disease, the death of brain nerve cells is caused by a dysfunction of the mechanism that transports a neurotrophic factor called BDNF to nerve terminals. Neurotrophic factors are made of a family of proteins that are responsible for the proper function of nerve cells. Brain cells die if the balance of these factors is disturbed.
It is currently unknown how BDNF is transported to these nerve terminals. However, the research team are interested in a protein called HAP1, whose job is to transport biological cargo throughout the nervous system.
“Our project will examine how HAP1 interacts with BDNF,” said Dr Zhou. “It may be that the defective gene interferes with this healthy relationship causing the BDNF to not be delivered to nerve cells.”
“Understanding how BDNF is transported to brain nerve tissue will create a better understanding of how Huntington’s develops and could aid in the development of a treatment for this disease and others like it,” he said.
Flinders also houses the SA Huntington Disease Unit where individuals can be screened for the gene defect which leads to the disease, the only place in South Australia that performs the test and provides a support and counselling service to those who receive a positive result.