In 1993, the life of the Williamson family, originally from Dundee, USA, was turned upside down. Sue, the matriarch, in fact discovered that she suffered from a rare form of cancer known as pheochromocytoma . Doctors only gave her 6 months to live. However, she defied this prognosis by living until December 2003.
In 2010, her husband Jo learned that the cancer that took over Sue was hereditary. So he suggested that their 4 children get tested. This is how he learned that twins Jennie and James inherited the genetic mutation that was the cause of their mother's cancer. The rest of the family then got tested. They found that Sue's older brother John who is 81 and her son Richard, 42, also carry this gene. In their case, it did not lead to cancer.
Unfortunately, Jennie and James weren't so lucky. Scans revealed that James had a tumor wrapped around his carotid artery. Jennie, for her part, has a tumor attached to her jugular vein. They are both inoperable.
A genetic mutation recreated in a worm
Jo has decided to lead a fierce fight against this cancer and to make people aware of the importance of scientific research carried out in this area. Currently, he works closely with researchers from universities in Hungary and India. Together, they want to determine the origin of the genetic mutation that is responsible for pheochromocytoma.
Recently, it was learned that they had successfully recreated the defective Williamsons gene in a tiny worm one millimeter long. According to the researchers, this is a vital step forward that may lead to the development of treatments for this cancer. They discovered through their study that the Williamsons gene altered the structure of a protein called SDHB.
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A glimmer of hope
The researchers chose to recreate this gene in a worm because in this species, the equivalent of SDHB has remained unchanged for hundreds of thousands of years. Unsurprisingly, the worm that carried the defective Williamsons gene fell ill, became sterile, and grew thin. The study of this animal allowed experts to draw conclusions about the disease.
They reported that the Williamson family mutation does not remove the entire SDHB gene in the affected DNA. On the other hand, the mutant SDHB gene would send the wrong instructions which lead to a modification of the structure of the protein. Most encouragingly, researchers have found that it is possible to kill Williamson worms with drugs that have no harmful effects on normal worms.
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This means that there could therefore be a cure for this cancer.