Scottish university research cracks gene mutation leading to Dundee families extremely rare cancer – Health News Scotland


A SCOTTISH university has cracked a gene mutation that led to a Dundonian family being affected with an extremely rare form of cancer and new research may find the cure.

The University of Dundee has been working with the Williamson family since 2014 to understand a gene mutation that causes a rare form of cancer found in generations of the family.

The family carries a faulty SDHB gene that is the create the functions for a major part of the energy production system of the body found near the mitochondria, known as the powerhouse cell.

Most cancers are caused by the regulation of gene  division, cancer secondary to the energy supply genes is rare.
Research finds reason behind rare gene causing cancer and may lead to cure
Dr Anil Mehta. Image supplied

Dr Anil Mehta leading the research decided to switch focus. For the first time they decided to use worms that led to the researches finding a biological model that can allow them to investigate the gene.

They discovered the Williamson family genes created too much lactic acid but believes they could find a drug that could deal with this and kill the cancer

Dr Mehta, Honorary Reader and Honorary Consultant Paediatrician, said: “We recreated the Williamson mutation in the worm and found that this worm not only lives a shortened life span but also shows a delayed and very abnormal development characteristic of known pathways linked to cancer.

“The Williamson worm makes far too much lactic acid. When we block the production of this lactic acid with drugs, we can kill these worms. Thus, we have the possibility of screening these mutant worms with drug cocktails, looking for drug candidates that might kill the worms and in turn find drugs that might also kill the cancers found in the family.” 

In 2018 the Williamson family set up the Phaeo and Para Cancer Charity to raise funds in the aim of supporting further research on the faulty gene.