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Credit:
Anil Mehta / University of Dundee

When the Williamson family from Dundee lost their mother Sue to a rare cancer named phaeochromocytoma in 2003, they didn’t realize that further devastation was to follow.

Of her four children, twins Jennie and James discovered that they also have the faulty gene that cut short their mother’s life. Both twins are affected with inoperable tumors wrapped around vital blood vessels and nerves in their necks. Father Jo decided to appear in a Cancer Research pledge video (below) in memory of his wife and to raise awareness of the important work that cancer researchers do for people like his children.

We have been working closely with the family to understand more about the gene mutation that causes this cancer. Along with a consortium of researchers from universities in Hungary and India, we have, for the first time, been able to recreate the Williamson defect in a tiny worm, just one millimetre long. This progress is vital to better understand the mutation, and it helps point to possible treatments for the cancer.

The cancer is called a phaeo. It pulses excessive adrenaline-like hormones into the circulation. Phaeo is hard to diagnose because it mimics conditions such as high blood pressure and can kill patients receiving routine anesthesia.

When symptoms occur in the young, phaeo may be picked up on imaging (such as ultrasound and MRI/CAT scans) with a high chance of phaeo-causing genes in their DNA. This is the case in the Williamson family, where mum Sue was the index case, but died of malignant-phaeo, despite the removal of a tumor in her twenties.

And even though two of her children carry this defective gene, the first modicum of hope is now on the horizon in familial phaeo after the family decided to find an alternative approach to their DNA mutation. The new hope fuses science, serendipity and a minuscule worm that has been around for hundreds of millions of years.

The Williamson worm

The defective gene in the Williamson family altered the structure of a protein called SDHB. SDHB has a very unusual function that needs an introductory explanation from science fiction. In the Back to the Future films, Doc Brown’s time-travelling DeLorean sports car is powered by a water-fueled “flux-capacitor” that can generate vast power. Now imagine that human life itself depends on the biological equivalent of such a device that fuels our internal power generation system. In biology, SDHB is like a flux capacitor that splits apart the sugar we eat into its constituent hydrogen and electricity.

A poster of the original Back To The Future film showing the star Michael J Fox.