Finding cures for children's genetic diseases


ALT discovery brings us closer to understanding a major cause of cancer


Telomeres are a special type of DNA at the ends of chromosomes that erode each time a cell divides. This erosion leads to aging and normally causes cells to stop growing. Cancer cells, however, grow out of control because they add on more telomere DNA. They do this by using either the enzyme telomerase or the Alternative Lengthening of Telomeres mechanism (ALT).

Researchers are trying to stop cancer growth in its tracks by finding ways to block both telomerase and ALT.

“While treatments to block telomerase are currently being developed,” says Prof Roger Reddel, Director of CMRI and a world expert on ALT, “if we want to block the Alternative Lengthening of Telomeres mechanism, we need to understand it better.”

That’s why the recently published work of CMRI’s Dr Axel Neumann is so important.

“I’ve developed a way to study ALT in mouse cells,” Axel says, “which is a valuable tool that will help us find the genes responsible for the 15% of all cancers that use ALT, including aggressive brain tumours like glioblastoma.

“What’s also exciting is I’ve discovered that ALT normally exists in mouse cells. This means it has a function in the body and simply gets hijacked for use in cancer, much as telomerase has a normal function in the body and gets misused by cancer cells. Now I’d really like to know what its normal function is.”

Dr Neumann’s success was possible because of a close collaboration between the Cancer Research Unit and Embryology Unit at CMRI. Results were published in the 1st of January 2013 edition of Genes and Development.

“This discovery took over ten years of painstaking work to achieve,” Prof Reddel says, “so I’m sure you will join me in congratulating Axel. His work will ultimately help us find the cures for ALT cancers.”