The Huntington's Scene In  New Zealand

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Articles taken from the Dec. 2003 Huntington's News. The Quarterly Newsletter of the Huntington's Disease Associations of New Zealand

Family support drives research into brain disease

Judy Wilford

On May 4 the Oswin family, John, his son Mark, and his two daughters Susie and Donna came to the University to mark a very special occasion.  This was the presentation, on behalf of their deceased son and brother, Matthew, of funding to support research into Huntington’s Disease.

Matthew, who died in the very early stages of Huntington’s Disease, requested that his brain be donated to the team of Professor Richard Faull (Anatomy), who is involved in world-leading research on the disease. In accordance with Matthew’s wishes, using funds from his estate, the Oswin family also established the Matthew Oswin Memorial Trust to support research on Huntington’s Disease.

In a meeting room at the Registry, the family met and discussed the research with Professor Richard Faull, Professor Tom Barnes, Deputy Vice-Chancellor (Research), and the inaugural recipient of the research award, Doris Thu, a PhD student undertaking studies on Huntington’s Disease.

John Oswin, a past president and current secretary of the Huntington’s Disease Association Auckland Inc, who also lost his wife to Huntington’s Disease, said the cooperation between the patients families and researchers at the University is not only wonderful but unique.  Richard Faull fully agrees with John on this.  “There is no other group of researchers in the world,” says Richard, “who receive this type of unique family, patient and community support through the bequest of human brains, along with the freedom and privilege  to talk with the families and correlate changes in the brain with full and direct accounts of the progression of the patient’s symptoms”.

“The work we’re doing is changing perspectives on the disease. The communication with families is an essential part of that.”

John says Richard, a patron of the Huntington’s Disease Association, has “won the hearts of the Huntington’s community” and its members are keen to help him in every way they can.  His own family, during the visit, took the chance to ask Richard about his latest research, which he described as very exciting, with hints of breakthroughs in several areas.

“The number of proteins the genes code for and the interaction between them can make this type of research very complex”, says Tom Barnes.  “We used to think there would be simple causes for disease - that we could find the right gene, switch it off and that would be it. However, we now know that genes can produce proteins that give instructions to other genes.  One gene may affect as many as 100 or 150 others.”

However, the gene that causes Huntington’s Disease, discovered and cloned through international research efforts, has been shown to diverge in quite simple   ways from its “normal” genetic equivalent.

“We know the protein the gene makes,” Richard explains, “which seems to cause a problem by aggregating and clogging the DNA machinery in the cell.   So now that we have recognised the process that causes the trouble, the challenge is to find ways of stopping it.”

A recent landmark advance by Maurice Curtis, a PhD student in Richard’s team, is the discovery that stem cells in the adult human brain are creating new brain cells in the presence of Huntington’s Disease.  This was about to be published  as University News went to press in the July 22 issue of PNAS, one of the top three international science journals.

Until five years ago, Richard explains, it was thought that adult humans could not grow new brain cells. However, a group of United States cancer researchers, aiming to document the spread of cancer by introducing a mitotic marker to show the distribution of new cells, came up with unexpected but irrefutable evidence that new cells could grow in adult human brains. Patients in the study ranged from 50 to 72 years.

Richard and his team have since established that Huntington’s patients do grow new brain cells, though not at a speed sufficient to halt or slow the disease.  The next step is to find out more about the processes involved, with the hope of finding ways of speeding them up.

It has also been shown by the research group in collaboration with researchers at Oxford University that exposure of mice with a gene for Huntington’s Disease to an enriched environment delays the neurochemical changes preceding the onset of the disease.

“We also know that human patients do better when looked after in a supportive environment,” says Richard. “In pointing up that one’s behaviour can modify body processes, this offers a new perspective on brain diseases, and means there is hope.”

“In Huntington’s Disease, the symptoms differ from one person to another,” he explains. “Doris Thu’s research involves looking at the differences in the cerebral cortex in different cases, and then checking back with the families to see how the changes in the brain relate to the patient’s symptoms.” This research is in collaboration with Dr Lynette Tippett and

Virginia Hogg from the Psychology Department.

“It was Matthew’s wish and intention that his brain be donated for the research after his death,” says Richard. “Cases like  Matthew’s can help us greatly in understanding the early stages of the disease. We know the very first chemical changes in the disease, and then the sequence of changes up to the most advanced stages. We are now able to correlate that information with data drawn from studies of the gene changes and cell proliferation.

“At the same time we are able to communicate with families and gather all the behavioural changes surrounding the case.”

“We couldn’t stop this research even if we wanted to,” says Richard, “because we have a commitment to the community.

“We often bring patients into our seminars, to help students realise how the disease affects a family. There is a huge change in our postgraduate students when they see the impact of the disease on people’s lives they find it so illuminating for their research studies.  Suddenly they realise how important their work is.” Judy Wilford

Judy Wilford
University of Auckland News
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