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Rare disease holds key to cancer

International Ataxia Awareness Day:  September 25

By understanding a rare disease, QIMR researchers are unlocking the answers to cancer and brain repair.

“They are so cheeky and get away with as much as they can,” said Sally Leeworthy, a loving mother of four.

The young Mum laughs as she talks about her children, but her expression changes as she explains about the disease that is predicted to claim two of them before their 25th birthday.

Marie and Jarrah have ataxia-telangiectasia (A-T), a rare, hereditary disease that affects many parts of the body.

“Jarrah, now eight, was diagnosed at two years old. He would be in and out of hospital with a cold that would turn into pneumonia. When I took him to the doctor, he said he would look at the worst case scenario and go from there.”

Unfortunately, Jarrah is living with the worst scenario.

A-T affects a portion of the brain called the cerebellum, causing increasing lack of coordination, and weakens the immune system, leading to respiratory disorders and increased risk of cancer.

Most A-T sufferers are diagnosed in early childhood with symptoms such as lack of balance, slurred speech, and increased infections.

“For a month after the diagnosis, no one could talk to me. I would burst into tears for no reason.”

“This is a very rare disorder, affecting approximately three in every million children, but it holds the key to understanding cancer and neurodegeneration in other conditions,” said Professor Martin Lavin, Head of QIMR’s Radiation Biology and Oncology Laboratory.

The gene defect that causes A-T was discovered and named after the disease, ataxia-telangiectasia mutated (ATM).

“DNA in every cell can be damaged from everyday things like sunlight. In normal cells, the ATM gene recognises and corrects errors or damage to DNA. However, when the ATM gene is mutated, as in A-T, damaged DNA is not repaired correctly and the cell will either die, or has an increased risk of giving rise to cancer,” said Professor Lavin.

“In people without A-T, small changes in the sequence of the gene have been found to play a role in many cancers, including stomach and breast cancer. Understanding how the ATM gene works will shed light on how cancers develop.”

“In our research of A-T, we hope to find out much more about the ATM gene and how crucial it is for a wide range of processes in the body.”

“An important goal of our research is also to prevent the cells in the cerebellum from dying and to replenish the ones that have died due to A-T.  Potentially, we may be able to use adult stem cells from the sinuses of patients and families to do this.”

“If we can reconstitute the ATM gene in these stem cells and teach them to become brain cells, we might be able to transplant them back into the A-T sufferers. This area still requires considerable research.”

Professor Lavin said A-T can open the way for many new therapies, but ultimately, he and his team of  researchers hope to reduce the health impacts for sufferers of A-T.

“Every day, we are working to help these children lead a normal life. We hope that one day we will find something that can do that.”


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