Health & Medicine - Posted by Eric de Wit-Queensland on Wednesday, August 8, 2012 12:37 - 1 Comment
To fight brain disease, team enlists skin cells
U. QUEENSLAND (AUS) — Stem cells made from skin cells help scientists advance the fight against a degenerative brain disease affecting children.
As part of a collaborative project, researchers at the University of Queensland have reprogrammed, for the first time, skin cells from people with the disease ataxia-telangiectasia in order to study the effectiveness of potential treatments.
Straight from the Source
As reported in Stem Cells Translational Medicine, the reprogramming involves taking skin cells, generating pluripotent stem cells, and turning them into brain cells for study in the lab.
People with ataxia-telangiectasia develop cancer and brain degeneration because a gene that recognizes and repairs DNA damage is defective.
Ernst Wolvetang, an assistant professor, says the ability to reprogram skin cells from children with ataxia-telangiectasia provided a renewable resource to study the neurodegeneration and find medicines to combat it.
“The next step is to correct the genetic mutations in the induced pluripotent stem cells from these patients and then turn these corrected stem cells into brain and blood cells and demonstrate these can replace the defective cells that cause the problems in this disease,” says Wolvetang, an assistant professor.
“Delivery of such corrected cells, which is still some years away, or novel drugs discovered using the cells generated in this study may help in treating this disease.”
The researchers could start screening medicines in one to two years, but testing in animals would have to be completed before they could be used in humans.
Ataxia-telangiectasia is a rare, inherited disease causing severe disability, including difficulty with movement and coordination, a weakened immune system, a predisposition to infection and a increasing the risk of cancer.
It affects between one in 100,000 and one in 300,000 people. Patients are frequently in a wheelchair by their early teens and it is generally fatal by the time they reach their twenties.
“I have met patients and their families,” says Wolvetang. “Witnessing the determination of the children to live life to the full and the heartache borne by their parents, it is self-evident that every effort must be expended to treat these rare diseases.”
The establishment of an Ataxia-telangiectasia Clinic by Kate Sinclair and colleagues at the Royal Children’s Hospital and the University of Queensland Centre for Clinical Research has been a great benefit to patient management and for the conduct of these studies.
“Joint PhD student Sam Nayler, the support of the patient advocate group BrAshAT, the National Health and Medical Research Council (NHMRC), and a private donor have been instrumental in the success of the project,” says Marin Lavin, a professor at the University of Queensland.
Wolvetang’s group at the Australian Institute for Bioengineering and Nanotechnology worked with collaborators from the Queensland Institute of Medical Research and the Centre for Clinical Research, led by Lavin.
More news from University of Queensland: http://www.uq.edu.au/news/