Step closer to understanding childhood degenerative brain disease

05 July 2012
Associate Professor Ernst Wolvetang (courtesy of AIBN)

Researchers at the Australian Institute for Bioengineering and Nanotechnology (AIBN) are a step closer to understanding and combating the degenerative brain disease ataxia-telangiectasia.


As part of a collaborative project, Stem Cells Australia's Associate Professor Ernst Wolvetang and his research group has reprogrammed, for the first time, skin cells from people with the disease so they can study the effectiveness of potential treatments. 

The reprogramming involves taking skin cells, generating pluripotent stem cells and turning them into brain cells for study in the lab.

A/Prof Wolvetang said 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.

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. People with ataxia-telangiectasia develop cancer and brain degeneration because a gene that recognises and repairs DNA damage is defective. 
The condition 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.

For more information

Step closer to understanding childhood degenerative brain disease UQ News 3 July 2012
Details of the skin cell reprogramming from ataxia telangiectasia patients have been published in the journal Stem Cells Translational Medicine: Nayler et al (2012) Induced Pluripotent Stem Cells from Ataxia-Telangiectasia Recapitulate the Cellular Phenotype Stem Cells Trans Med doi:10.5966 [Subscription maybe required]